{"id":90242,"date":"2025-01-16T17:56:32","date_gmt":"2025-01-16T08:56:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=90242"},"modified":"2026-03-04T12:55:53","modified_gmt":"2026-03-04T03:55:53","slug":"17p13-1deletionsyndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/","title":{"rendered":"17p13.1\u6b20\u5931\u75c7\u5019\u7fa4\uff0817p13.1 deletion syndrome\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91_DLG%E3%80%80DLG4_%E9%96%A2%E9%80%A3%E3%82%B7%E3%83%8A%E3%83%97%E3%82%BD%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88DLG4-Related_Synaptopathy%EF%BC%89\" >[\uff11_DLG]\u3000DLG4 \u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\uff08DLG4-Related Synaptopathy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%92_ACADVL%E3%80%80%E6%A5%B5%E9%95%B7%E9%8E%96%E3%82%A2%E3%82%B7%E3%83%ABCoA%E8%84%B1%E6%B0%B4%E7%B4%A0%E9%85%B5%E7%B4%A0%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Very_Long-Chain_Acyl-Coenzyme_A_Dehydrogenase_Deficiency%EF%BC%89\" >[\uff12_ACADVL]\u3000\u6975\u9577\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%93_CHRNB1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E7%AD%8B%E7%84%A1%E5%8A%9B%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Congenital_Myasthenic_Syndrome%EF%BC%89\" >[\uff13_CHRNB1]\u3000\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08Congenital Myasthenic Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%94_MPDU1%E3%80%80N%E5%9E%8B%E7%B3%96%E9%8E%96%E4%BB%98%E5%8A%A0%E3%81%A8%E5%A4%9A%E9%87%8D%E7%B5%8C%E8%B7%AF%E3%81%AE%E5%85%88%E5%A4%A9%E6%80%A7%E7%96%BE%E6%82%A3%EF%BC%88Congenital_Disorders_of_N-Linked_Glycosylation_and_Multiple_Pathways%EF%BC%89\" >[\uff14_MPDU1]\u3000N\u578b\u7cd6\u9396\u4ed8\u52a0\u3068\u591a\u91cd\u7d4c\u8def\u306e\u5148\u5929\u6027\u75be\u60a3\uff08Congenital Disorders of N-Linked Glycosylation and 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%96_WRAP53%E3%80%80%E3%83%87%E3%82%A3%E3%82%B9%E3%82%B1%E3%83%A9%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9%E5%85%88%E5%A4%A9%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E7%96%BE%E6%82%A3%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\" >[\uff16_WRAP53]\u3000\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3\uff08Dyskeratosis Congenita and Related Telomere Biology Disorders\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%97_GUCY2D%E3%80%80%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E6%80%A7%E9%BB%92%E5%86%85%E9%9A%9C%E3%80%81%E6%97%A9%E7%99%BA%E6%80%A7%E9%87%8D%E5%BA%A6%E7%B6%B2%E8%86%9C%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%EF%BC%88Leber_Congenital_Amaurosis_Early-Onset_Severe_Retinal_Dystrophy%EF%BC%89\" >[\uff17_GUCY2D]\u3000\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\u3001\u65e9\u767a\u6027\u91cd\u5ea6\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Leber Congenital Amaurosis; Early-Onset Severe Retinal Dystrophy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%98_ALOX12B%EF%BC%99_ALOXE3%E3%80%80%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E5%8A%A3%E6%80%A7%E5%85%88%E5%A4%A9%E6%80%A7%E9%AD%9A%E9%B1%97%E7%99%AC%EF%BC%88Autosomal_Recessive_Congenital_Ichthyosis%EF%BC%89\" >[\uff18_ALOX12B,\uff19_ALOXE3]\u3000\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08Autosomal Recessive Congenital Ichthyosis\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%90_HES7%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%83%98%E3%83%AB%E3%83%8B%E3%82%A2%E3%80%81%E8%84%8A%E8%82%8B%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%88Congenital_Diaphragmatic_Hernia_Spondylocostal_Dysostosis%EF%BC%89\" >[\uff11\uff10_HES7]\u3000\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3001\u810a\u808b\u9aa8\u7570\u5f62\u6210\u75c7\uff08Congenital Diaphragmatic Hernia; Spondylocostal Dysostosis\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%91_TMEM107%E3%80%80%E3%83%A1%E3%83%83%E3%82%B1%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A413%EF%BC%88Meckel_syndrome_13%E3%83%BB%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4_Joubert_Syndrome%EF%BC%89\" >[\uff11\uff11_TMEM107]\u3000\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa413\uff08Meckel syndrome 13\u30fb\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4 Joubert Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%92_CTC1_%E3%83%87%E3%82%A3%E3%82%B9%E3%82%B1%E3%83%A9%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9%E5%85%88%E5%A4%A9%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E7%96%BE%E6%82%A3%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\" >[\uff11\uff12_CTC1] \u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3\uff08Dyskeratosis Congenita and Related Telomere Biology Disorders\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%93_RANGRF%E3%80%80%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Brugada_Syndrome%EF%BC%89\" >[\uff11\uff13_RANGRF]\u3000\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Brugada Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%94_RPL26%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\" >[\uff11\uff14_RPL26]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08Diamond-Blackfan Anemia\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%EF%BC%91%EF%BC%95_NTN1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E9%8F%A1%E5%8B%95%E4%BD%9C%EF%BC%88Congenital_Mirror_Movements%EF%BC%89\" >[\uff11\uff15_NTN1]\u3000\u5148\u5929\u6027\u93e1\u52d5\u4f5c\uff08Congenital Mirror Movements\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E8%A8%98%E4%BA%8B%E6%A6%82%E8%A6%81\"><\/span>\u8a18\u4e8b\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p> \u732b\u9cf4\u75c7\u5019\u7fa4\u306f\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u4e73\u5150\u671f\u306b\u732b\u306e\u9cf4\u304d\u58f0\u306e\u3088\u3046\u306a\u9ad8\u3044\u6ce3\u304d\u58f0\u3092\u767a\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u7b2c5\u67d3\u8272\u4f53\u77ed\u8155\uff085p\uff09\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u8eab\u4f53\u7684\u30fb\u767a\u9054\u7684\u30fb\u884c\u52d5\u7684\u306a\u3055\u307e\u3056\u307e\u306a\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u4ecb\u5165\u306b\u3088\u3063\u3066\u3001\u60a3\u8005\u306e\u767a\u9054\u3068\u751f\u6d3b\u306e\u8cea\u3092\u5927\u5e45\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">DLG4<\/td><td class=\"has-text-align-center\" data-align=\"center\">DLG4 \u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc<\/td><td class=\"has-text-align-center\" data-align=\"center\">DLG4-Related Synaptopathy<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">ACADVL<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6975\u9577\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">CHRNB1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Congenital Myasthenic Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">MPDU1<\/td><td class=\"has-text-align-center\" data-align=\"center\">N\u578b\u7cd6\u9396\u4ed8\u52a0\u3068\u591a\u91cd\u7d4c\u8def\u306e\u5148\u5929\u6027\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Congenital Disorders of N-Linked Glycosylation and Multiple Pathways<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">TP53<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u7d20\u56e0\u75c7\u5019\u7fa4\u3001\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Wilms Tumor Predisposition; Li-Faumeni Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff16<\/td><td class=\"has-text-align-center\" data-align=\"center\">WRAP53<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Dyskeratosis Congenita and Related Telomere Biology Disorders<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff17<\/td><td class=\"has-text-align-center\" data-align=\"center\">GUCY2D<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\u3001\u65e9\u767a\u6027\u91cd\u5ea6\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td><td class=\"has-text-align-center\" data-align=\"center\">Leber Congenital Amaurosis; <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a>-Onset Severe Retinal Dystrophy<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff18<\/td><td class=\"has-text-align-center\" data-align=\"center\">ALOX12B<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c<\/td><td class=\"has-text-align-center\" data-align=\"center\">Autosomal Recessive Congenital Ichthyosis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff19<\/td><td class=\"has-text-align-center\" data-align=\"center\">ALOXE3<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c<\/td><td class=\"has-text-align-center\" data-align=\"center\">Autosomal Recessive Congenital Ichthyosis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff10<\/td><td class=\"has-text-align-center\" data-align=\"center\">HES7<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3001\u810a\u808b\u9aa8\u7570\u5f62\u6210\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Congenital Diaphragmatic Hernia; Spondylocostal Dysostosis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">TMEM107<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa413\u30fb\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Meckel syndrome 13\u30fbJoubert Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">CTC1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Dyskeratosis Congenita and Related Telomere Biology Disorders<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">RANGRF<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Brugada Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">RPL26<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840<\/td><td class=\"has-text-align-center\" data-align=\"center\">Diamond-Blackfan Anemia<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">NTN1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5148\u5929\u6027\u93e1\u52d5\u4f5c<\/td><td class=\"has-text-align-center\" data-align=\"center\">Congenital Mirror Movements<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"923\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo17-MeDSMTDPXcORMCUHWAAAAOHT.png\" alt=\"chromo17\" class=\"wp-image-89894\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_DLG%E3%80%80DLG4_%E9%96%A2%E9%80%A3%E3%82%B7%E3%83%8A%E3%83%97%E3%82%BD%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88DLG4-Related_Synaptopathy%EF%BC%89\"><\/span>[\uff11_DLG]\u3000DLG4 \u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\uff08DLG4-Related Synaptopathy\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/DLG4-hgtIdeo_genome_35e329_8cae00-1024x20.png\" alt=\"DLG4\" class=\"wp-image-90261\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DLG4\u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\u306f\u3001DLG4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u5185\u3067\u8208\u596e\u6027\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308bPSD-95\uff08\u30b7\u30ca\u30d7\u30b9\u5f8c\u5bc6\u5ea6\u30bf\u30f3\u30d1\u30af\u8cea95\uff09\u3092\u4f5c\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u306b\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u304c\u591a\u3044\uff09\u3001\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7d04\u534a\u6570\u306e\u60a3\u8005\u306b\u3066\u3093\u304b\u3093\u304c\u898b\u3089\u308c\u3001\u7d0440\uff05\u306e\u60a3\u8005\u3067\u904b\u52d5\u6a5f\u80fd\u3084\u8a00\u8a9e\u80fd\u529b\u306e\u9000\u884c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u53cd\u5fa9\u52d5\u4f5c\u3084\u904b\u52d5\u5931\u8abf\uff08\u30a2\u30bf\u30ad\u30b7\u30a2\uff09\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u9707\u3048\uff08\u632f\u6226\uff09\u3068\u3044\u3063\u305f\u904b\u52d5\u969c\u5bb3\u3001\u7247\u982d\u75db\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u7761\u7720\u969c\u5bb3\u3082\u4e00\u822c\u7684\u3067\u3001\u5165\u7720\u3084\u7761\u7720\u306e\u7dad\u6301\u304c\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u659c\u8996\u3001\u9060\u8996\u3001\u773c\u632f\u3001\u5927\u8133\u76ae\u8cea\u76f2\u3068\u3044\u3063\u305f\u773c\u306e\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u4e57\u308a\u7269\u9154\u3044\u3001\u75b2\u52b4\u306b\u3088\u308a\u5614\u5410\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8eab\u4f53\u7684\u306b\u306f\u3001\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\uff0837\uff05\uff09\u3084\u810a\u690e\u5074\u5f2f\uff0820\uff05\uff09\u304c\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"425\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/4556689_s.jpg\" alt=\"\u30d9\u30d3\u30fc\u30d9\u30c3\u30c9 \" class=\"wp-image-90272\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u73fe\u5728\u3001DLG4\u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\u3092\u6839\u672c\u7684\u306b\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u60a3\u8005\u3054\u3068\u306e\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u3066\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u3001\u7247\u982d\u75db\u3001\u904b\u52d5\u5931\u8abf\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u8996\u899a\u969c\u5bb3\u306a\u3069\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u4e0d\u7720\u75c7\u306b\u5bfe\u3057\u3066\u306f\u884c\u52d5\u7642\u6cd5\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u91cd\u5ea6\u306e\u7761\u7720\u969c\u5bb3\u306b\u306f\u85ac\u7269\u7642\u6cd5\u304c\u8003\u616e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3068\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u8a3a\u5bdf\u3067\u306f\u3001\u767a\u4f5c\u3084\u904b\u52d5\u6a5f\u80fd\u3001\u7b4b\u7dca\u5f35\u3001\u7247\u982d\u75db\u306a\u3069\u306e\u65b0\u3057\u3044\u75c7\u72b6\u304c\u306a\u3044\u304b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u306e\u9032\u884c\u3001\u79fb\u52d5\u80fd\u529b\u3001\u65e5\u5e38\u751f\u6d3b\u30b9\u30ad\u30eb\u306e\u78ba\u8a8d\u3082\u884c\u308f\u308c\u307e\u3059\u3002\u7279\u306b\u5b50\u3069\u3082\u304c\u6210\u9577\u3059\u308b\u904e\u7a0b\u3067\u3001\u4e0d\u5b89\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u653b\u6483\u6027\u3001\u81ea\u50b7\u884c\u70ba\u3068\u3044\u3063\u305f\u884c\u52d5\u9762\u306e\u554f\u984c\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u9069\u5207\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u773c\u79d1\u691c\u67fb\u306f\u5e74\u306b1\u56de\u307e\u305f\u306f\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5b9f\u65bd\u3057\u3001\u767a\u9054\u306e\u9000\u884c\u3084\u7570\u5e38\u306a\u8133\u6ce2\u304c\u3042\u308b\u5834\u5408\u306b\u306f24\u6642\u9593\u306e\u8133\u6ce2\u691c\u67fb\uff08EEG\uff09\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17q12-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17q12 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17q12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u814e\u7570\u5e38\u3084\u7cd6\u5c3f\u75c5\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"393\" height=\"292\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-P78352-F1.png\" alt=\"Disks large homolog 4\" class=\"wp-image-90264\" style=\"width:601px;height:auto\"\/><\/figure><\/div>\n\n\n<p>DLG4\u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\u306f\u3001\u4e3b\u306bDLG4\u907a\u4f1d\u5b50\u306e\u65b0\u751f\uff08de novo\uff09\u75c5\u7684\u5909\u7570\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u75be\u60a3\u3067\u3059\u3002\u307e\u308c\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u578b\u307e\u305f\u306f\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u306e\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bb6\u65cf\u5185\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u75c5\u7684\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u5411\u3051\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DLG4\u95a2\u9023\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\u306e\u4e88\u5f8c\uff08\u5bff\u547d\uff09\u306f\u4e0d\u660e\u3067\u3059\u304c\u300147\u6b73\u307e\u3067\u751f\u5b58\u3057\u305f\u5831\u544a\u4f8b\u304c\u3042\u308a\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u904e\u53bb\u306b\u306f\u3001\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u3068\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3053\u308c\u3089\u304c\u4e00\u822c\u7684\u306a\u7279\u5fb4\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001DLG4\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u6a5f\u80fd\u306e\u55aa\u5931\u306b\u8d77\u56e0\u3057\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u4e3b\u306b\u8133\u306e\u767a\u9054\u3068\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3010\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\u3011<a href=\"https:\/\/www.dlg4shine.org\/\">DLG4 SHINE Foundation<\/a><\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_ACADVL%E3%80%80%E6%A5%B5%E9%95%B7%E9%8E%96%E3%82%A2%E3%82%B7%E3%83%ABCoA%E8%84%B1%E6%B0%B4%E7%B4%A0%E9%85%B5%E7%B4%A0%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Very_Long-Chain_Acyl-Coenzyme_A_Dehydrogenase_Deficiency%EF%BC%89\"><\/span>[\uff12_ACADVL]\u3000\u6975\u9577\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/ACADVL-hgtIdeo_genome_152ddc_9b1290-1024x20.png\" alt=\"ACADVL \" class=\"wp-image-90279\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6975\u9577\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08VLCAD\u6b20\u640d\u75c7\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u306e\u9577\u9396\u8102\u80aa\u9178\u306e\u5206\u89e3\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u306a\u3044\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u5206\u89e3\u30d7\u30ed\u30bb\u30b9\u306f\u3001\u7a7a\u8179\u6642\u3084\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u304c\u9ad8\u307e\u308b\u72b6\u6cc1\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308a\u51fa\u3059\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u8102\u80aa\u9178\u306e\u03b2\u9178\u5316\u306e\u521d\u671f\u6bb5\u968e\u3092\u62c5\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3059\u308b<strong>ACADVL\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u6709\u5bb3\u306a\u8102\u80aa\u9178\u4ee3\u8b1d\u7269\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u5fc3\u81d3\u3001\u809d\u81d3\u3001\u9aa8\u683c\u7b4b\u306a\u3069\u306e\u81d3\u5668\u306b\u640d\u50b7\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>VLCAD\u6b20\u640d\u75c7\u306f\u3001\u91cd\u75c7\u5ea6\u3084\u767a\u75c7\u5e74\u9f62\u306b\u5fdc\u3058\u30663\u3064\u306e\u4e3b\u8981\u306a\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u91cd\u75c7\u306a\u65e9\u671f\u767a\u75c7\u578b\uff08\u5fc3\u81d3\u304a\u3088\u3073\u591a\u81d3\u5668\u4e0d\u5168\u578b\uff09\u306f\u3001\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3001\u80a5\u5927\u578b\u307e\u305f\u306f\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u3001\u5fc3\u56a2\u6db2\u8caf\u7559\u3001\u4e0d\u6574\u8108\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u809d\u816b\u5927\uff08\u809d\u81d3\u306e\u816b\u308c\uff09\u3001\u304a\u3088\u3073\u30b1\u30c8\u30f3\u4f53\u3092\u4f34\u308f\u306a\u3044\u4f4e\u8840\u7cd6\uff08\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u809d\u578b\uff08\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u578b\uff09\u306f\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u4f4e\u8840\u7cd6\u3068\u809d\u816b\u5927\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u5fc3\u7b4b\u75c7\u306f\u4f34\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5f8c\u767a\u578b\uff08\u7b4b\u578b\uff09\u306f\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u306b\u767a\u75c7\u3057\u3001\u904b\u52d5\u306b\u3088\u308b\u7b4b\u8089\u75db\u3001\u3051\u3044\u308c\u3093\u3001\u904b\u52d5\u8010\u6027\u306e\u4f4e\u4e0b\u3001\u304a\u3088\u3073\u904b\u52d5\u3084\u7a7a\u8179\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\uff08\u7b4b\u8089\u306e\u7834\u58ca\uff09\u306a\u3069\u306e\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001\u75c7\u72b6\u767a\u73fe\u6642\u306b\u4f4e\u8840\u7cd6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"359\" height=\"260\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-P49748-F1.png\" alt=\"Very long-chain specific acyl-CoA dehydrogenase, mitochondrial\" class=\"wp-image-90283\" style=\"width:659px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff09\u306b\u3088\u3063\u3066\u3001VLCAD\u6b20\u640d\u75c7\u306e\u65e9\u671f\u8a3a\u65ad\u304c\u5927\u5e45\u306b\u5411\u4e0a\u3057\u307e\u3057\u305f\u3002\u8a3a\u65ad\u6642\u306b\u7121\u75c7\u72b6\u306e\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u65e9\u671f\u306b\u7ba1\u7406\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3057\u3001\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002VLCAD\u6b20\u640d\u75c7\u306e\u767a\u75c7\u983b\u5ea6\u306f\u3001\u51fa\u751f30,000\u4eba\u306b1\u4eba\u304b\u3089100,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3001\u4ee3\u8b1d\u5371\u6a5f\u306e\u4e88\u9632\u3068\u75c7\u72b6\u306e\u7ba1\u7406\u3067\u3059\u3002\u65e5\u5e38\u306e\u30b1\u30a2\u306b\u306f\u3001\u9577\u9396\u8102\u80aa\u3092\u5c11\u306a\u304f\u3057\u4e2d\u9396\u8102\u80aa\u9178\uff08MCT\uff09\u3092\u591a\u304f\u542b\u3080\u7279\u5225\u306a\u98df\u4e8b\u7642\u6cd5\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u6b20\u640d\u3057\u305f\u9175\u7d20\u3092\u8fc2\u56de\u3057\u3001\u4ee3\u66ff\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u7a7a\u8179\u306b\u3088\u308b\u75c7\u72b6\u3092\u9632\u3050\u305f\u3081\u3001\u7279\u306b\u4e73\u5e7c\u5150\u3067\u306f\u983b\u7e41\u306a\u98df\u4e8b\u3084\u8907\u96d1\u306a\u70ad\u6c34\u5316\u7269\u3092\u542b\u3080\u591c\u9593\u306e\u304a\u3084\u3064\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u30aa\u30e1\u30ac\u8102\u80aa\u9178\u3001\u30d3\u30bf\u30df\u30f3A\u3001D\u3001E\u306a\u3069\u306e\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u904e\u5ea6\u306a\u904b\u52d5\u306f\u7b4b\u8089\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u904b\u52d5\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2267116_s.jpg\" alt=\"MCT\u30aa\u30a4\u30eb\" class=\"wp-image-90302\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7dca\u6025\u6642\u306b\u306f\u3001\u70b9\u6ef4\u306b\u3088\u308b\u30d6\u30c9\u30a6\u7cd6\u3068\u6c34\u5206\u88dc\u7d66\u3067\u8840\u7cd6\u5024\u3092\u5b89\u5b9a\u3055\u305b\u3001\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3092\u9632\u304e\u307e\u3059\u3002\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u304c\u767a\u751f\u3057\u305f\u5834\u5408\u306f\u3001\u5341\u5206\u306a\u6c34\u5206\u88dc\u7d66\u3068\u5c3f\u306e\u30a2\u30eb\u30ab\u30ea\u5316\u304c\u814e\u6a5f\u80fd\u3092\u4fdd\u8b77\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u3067\u3059\u3002\u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u306b\u306f\u3001\u8853\u524d\u7ba1\u7406\u3092\u614e\u91cd\u306b\u8a08\u753b\u3059\u308b\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>VLCAD\u6b20\u640d\u75c7\u306e\u52b9\u679c\u7684\u306a\u7ba1\u7406\u306b\u306f\u3001\u5b9a\u671f\u7684\u306a\u76e3\u8996\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u6210\u9577\u3084\u767a\u9054\u306e\u9032\u6357\u3001\u6804\u990a\u72b6\u614b\u306e\u8a55\u4fa1\u304c\u5b9a\u671f\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8840\u6db2\u691c\u67fb\u3067\u4ee3\u8b1d\u30de\u30fc\u30ab\u30fc\u3092\u76e3\u8996\u3057\u3001\u5fc3\u81d3\u306e\u6a5f\u80fd\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306e\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u7b4b\u8089\u306e\u5065\u5eb7\u72b6\u614b\u306e\u8a55\u4fa1\u3082\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308cACADVL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3001\u5b50\u3069\u3082\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25\uff05\u3067\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308a\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3092\u7279\u5b9a\u3057\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u51fa\u751f\u524d\u307e\u305f\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u91cd\u75c7\u578b\u306e\u4e73\u5150\u3067\u3082\u826f\u597d\u306a\u4e88\u5f8c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084\u98df\u4e8b\u7642\u6cd5\u3001\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u5065\u5eb7\u7684\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3057\u305f\u3002\u305f\u3060\u3057\u3001\u7d42\u751f\u306b\u308f\u305f\u308b\u76e3\u8996\u3068\u500b\u5225\u306e\u6cbb\u7642\u8a08\u753b\u304c\u3001\u3053\u306e\u75be\u60a3\u3092\u52b9\u679c\u7684\u306b\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u306f\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\u3011<a href=\"https:\/\/managementguidelines.net\/toolkit.php\/165\/VLCAD%20Nutrition%20Toolkit\/Version%201.18\">SRGN\u3068GMDI\u306b\u3088\u308bVLCAD\u6804\u990a\u7ba1\u7406\u30c4\u30fc\u30eb\u30ad\u30c3\u30c8<\/a><\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/1p32_p31_deletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">1p32-p31\u6b20\u5931\u75c7\u5019\u7fa4\uff081p32-p31 Deletion Syndrome\uff09\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">1p32-p31\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u65b9\u6cd5\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u652f\u63f4\u3092\u901a\u3058\u3066\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_CHRNB1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E7%AD%8B%E7%84%A1%E5%8A%9B%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Congenital_Myasthenic_Syndrome%EF%BC%89\"><\/span>[\uff13_CHRNB1]\u3000\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08Congenital Myasthenic Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/b12ccae7851df5bdadb242ab4a4979a0-1024x20.png\" alt=\"CHRNB1\u3000\" class=\"wp-image-90310\"\/><\/figure><\/div>\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08CMS\uff09\u306f\u3001\u795e\u7d4c\u3068\u7b4b\u8089\u306e\u9593\u306e\u4fe1\u53f7\u4f1d\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u7b4b\u529b\u4f4e\u4e0b\u306f\u3001\u6d3b\u52d5\u3068\u3068\u3082\u306b\u60aa\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306f\u901a\u5e38\u3001\u51fa\u751f\u76f4\u5f8c\u307e\u305f\u306f\u5e7c\u5c11\u671f\uff08\u4e3b\u306b2\u6b73\u307e\u3067\uff09\u306b\u59cb\u307e\u308a\u307e\u3059\u304c\u3001\u7a00\u306b\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002CMS\u306f\u4e3b\u306b\u9aa8\u683c\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u5fc3\u7b4b\u3084\u5e73\u6ed1\u7b4b\u306b\u306f\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u305b\u3093\u3002\u8a8d\u77e5\u80fd\u529b\u3001\u5354\u8abf\u6027\u3001\u611f\u899a\u3001\u8171\u53cd\u5c04\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u4e00\u90e8\u306eCMS\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u306f\u3001\u7b4b\u529b\u4f4e\u4e0b\u306b\u52a0\u3048\u3066\u3088\u308a\u8907\u96d1\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CMS\u306e\u91cd\u75c7\u5ea6\u3084\u9032\u884c\u306f\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u8efd\u5ea6\u306e\u904b\u52d5\u4e0d\u8010\u6027\u3060\u3051\u3092\u7d4c\u9a13\u3059\u308b\u4eba\u3082\u3044\u308c\u3070\u3001\u7b4b\u529b\u4f4e\u4e0b\u304c\u9855\u8457\u3067\u3042\u3063\u305f\u308a\u3001\u767a\u71b1\u3084\u611f\u67d3\u75c7\u3001\u30b9\u30c8\u30ec\u30b9\u306b\u3088\u3063\u3066\u7a81\u7136\u547c\u5438\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u4eba\u3082\u3044\u307e\u3059\u3002\u65b0\u751f\u5150\u3067\u306f\u3001\u65ad\u7d9a\u7684\u306a\u7121\u547c\u5438\u3084\u30c1\u30a2\u30ce\u30fc\u30bc\u306a\u3069\u306e\u547c\u5438\u554f\u984c\u3001\u6388\u4e73\u56f0\u96e3\u3001\u5438\u3046\u529b\u306e\u5f31\u3055\u3001\u6ce3\u304d\u58f0\u306e\u5f31\u3055\u3001\u5168\u8eab\u7684\u306a\u7b4b\u529b\u4f4e\u4e0b\u304c\u4e00\u822c\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u80ce\u5150\u671f\u306e\u904b\u52d5\u4e0d\u8db3\u306b\u8d77\u56e0\u3059\u308b\u95a2\u7bc0\u62d8\u7e2e\uff08\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\u75c7\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\uff09\u3084\u3001\u7d30\u9577\u3044\u9854\u3001\u72ed\u3044\u984e\u3001\u9ad8\u3044\u53e3\u84cb\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5e7c\u5150\u671f\u4ee5\u964d\u3067\u306f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u304c\u4e0b\u304c\u308b\u72b6\u614b\uff09\u3001\u773c\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u9854\u9762\u3084\u54bd\u982d\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u56a5\u4e0b\u3084\u767a\u58f0\u306e\u56f0\u96e3\u306a\u3069\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"849\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2025-01-17-113738-1024x849.png\" alt=\"Figure 1. Localization of CMS types and therapeutic strategies.\" class=\"wp-image-90327\"\/><\/figure><\/div>\n\n\n<p class=\"has-text-align-center\"><sup>Thompson, R., Bonne, G., Missier, P., &amp; Lochm\u00fcller, H. (2019). [Figure&nbsp;1. Localization of CMS types and therapeutic strategies.] Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. <em>Emerging topics in life sciences<\/em>, <em>3<\/em>(1), 19\u201337. https:\/\/doi.org\/10.1042\/ETLS20180100<\/sup><\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u30ea\u30e0\u30ac\u30fc\u30c9\u30eb\u578b\u7b4b\u7121\u529b\u75c7\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u7b4b\u529b\u4f4e\u4e0b\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8170\u90e8\u3084\u80a9\u5468\u308a\u306e\u7b4b\u8089\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u3088\u308d\u3081\u304f\u3088\u3046\u306a\u6b69\u884c\u3084\u968e\u6bb5\u306e\u4e0a\u308a\u4e0b\u308a\u306e\u56f0\u96e3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u611f\u67d3\u75c7\u3001\u767a\u71b1\u306a\u3069\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u4e2d\u306b\u7a81\u7136\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u614e\u91cd\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>CMS\u306e\u6cbb\u7642\u306f\u3001\u500b\u3005\u306e\u60a3\u8005\u3084\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u5fdc\u3058\u3066\u9ad8\u5ea6\u306b\u500b\u5225\u5316\u3055\u308c\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u6cbb\u7642\u65b9\u91dd\u3092\u6c7a\u5b9a\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u7570\u306a\u308b\u30b5\u30d6\u30bf\u30a4\u30d7\u304c\u7570\u306a\u308b\u6cbb\u7642\u6cd5\u306b\u53cd\u5fdc\u3057\u307e\u3059\u3002\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u85ac\u306b\u306f\u3001\u795e\u7d4c\u3068\u7b4b\u8089\u306e\u9593\u306e\u4fe1\u53f7\u4f1d\u9054\u3092\u6539\u5584\u3059\u308b\u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3\uff08\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u963b\u5bb3\u85ac\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3059\u3079\u3066\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u304c\u3053\u306e\u85ac\u306b\u52b9\u679c\u304c\u3042\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u4e00\u90e8\u3067\u306f\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ed6\u306e\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\u3092\u5897\u52a0\u3055\u305b\u308b3,4-\u30b8\u30a2\u30df\u30ce\u30d4\u30ea\u30b8\u30f3\uff083,4-DAP\uff09\u3084\u3001\u30a8\u30d5\u30a7\u30c9\u30ea\u30f3\u3084\u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb\uff08\u7279\u5b9a\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u6709\u52b9\uff09\u304c\u4f7f\u7528\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u85ac\u306e\u526f\u4f5c\u7528\u306f\u614e\u91cd\u306b\u76e3\u8996\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u500b\u3005\u306e\u53cd\u5fdc\u306b\u5fdc\u3058\u3066\u6295\u4e0e\u91cf\u3092\u8abf\u6574\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002CHRNB1\u95a2\u9023CMS\u306e\u5834\u5408\u3001\u30d5\u30eb\u30aa\u30ad\u30bb\u30c1\u30f3\u3001\u30ad\u30cb\u30b8\u30f3\u3001\u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3\u304c\u7b2c\u4e00\u9078\u629e\u85ac\u3068\u3057\u3066\u63a8\u5968\u3055\u308c\u3066\u304a\u308a\u3001\u88dc\u52a9\u7684\u306a\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb\u3084\u30a8\u30d5\u30a7\u30c9\u30ea\u30f3\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u85ac\u7269\u6cbb\u7642\u3092\u59cb\u3081\u308b\u969b\u306f\u5fc5\u305a\u533b\u7642\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"300\" height=\"133\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-P11230-F1.png\" alt=\"Acetylcholine receptor subunit beta (Gene: CHRNB1)\" class=\"wp-image-90324\" style=\"width:706px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u85ac\u7269\u6cbb\u7642\u4ee5\u5916\u306b\u3082\u3001CMS\u306e\u7ba1\u7406\u306b\u306f\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u591a\u9762\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u91cd\u8981\u3067\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u52a0\u3048\u3001\u91cd\u75c7\u306e\u5834\u5408\u306b\u306f\u8eca\u6905\u5b50\u3084\u88c5\u5177\u3001\u4eba\u5de5\u547c\u5438\u5668\u306e\u4f7f\u7528\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6442\u98df\u56f0\u96e3\u304c\u3042\u308b\u60a3\u8005\u306b\u306f\u3001\u80c3\u308d\u3046\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u4e73\u5150\u3092\u6301\u3064\u89aa\u306f\u3001\u7121\u547c\u5438\u30e2\u30cb\u30bf\u30fc\u306e\u4f7f\u7528\u3084\u5fc3\u80ba\u8607\u751f\u6cd5\uff08CPR\uff09\u306e\u8a13\u7df4\u3092\u53d7\u3051\u3001\u7a81\u7136\u306e\u547c\u5438\u56f0\u96e3\u306b\u5bfe\u5fdc\u3067\u304d\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u529b\u3084\u547c\u5438\u6a5f\u80fd\u3001\u5168\u4f53\u7684\u306a\u5065\u5eb7\u72b6\u614b\u306e\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u5b50\u3069\u3082\u306f\u901a\u5e386\u304b\u6708\u3054\u3068\u3001\u5927\u4eba\u306f\u5e74\u306b1\u56de\u306e\u8a55\u4fa1\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u60a3\u8005\u306f\u3001\u547c\u5438\u304a\u3088\u3073\u5fc3\u81d3\u306e\u7dbf\u5bc6\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u884c\u3046\u5c02\u9580\u533b\u3068\u306e\u9023\u643a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>CMS\u306f\u514d\u75ab\u5fdc\u7b54\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u514d\u75ab\u8abf\u7bc0\u7642\u6cd5\u306f\u52b9\u679c\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u307b\u3068\u3093\u3069\u306eCMS\u30b5\u30d6\u30bf\u30a4\u30d7\u306f\u4f55\u3089\u304b\u306e\u85ac\u7269\u7642\u6cd5\u306b\u53cd\u5fdc\u3057\u307e\u3059\u304c\u3001\u6cbb\u7642\u306e\u6709\u52b9\u6027\u306f\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u7279\u5b9a\u306e\u85ac\u304c\u3042\u308b\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u6709\u52b9\u3067\u3042\u3063\u3066\u3082\u3001\u5225\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u306f\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u500b\u5225\u5316\u3055\u308c\u305f\u6cbb\u7642\u8a08\u753b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u9069\u5207\u306a\u30b1\u30a2\u3068\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306b\u3088\u308a\u3001CMS\u306e\u60a3\u8005\u306f\u75c7\u72b6\u3092\u52b9\u679c\u7684\u306b\u7ba1\u7406\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_MPDU1%E3%80%80N%E5%9E%8B%E7%B3%96%E9%8E%96%E4%BB%98%E5%8A%A0%E3%81%A8%E5%A4%9A%E9%87%8D%E7%B5%8C%E8%B7%AF%E3%81%AE%E5%85%88%E5%A4%A9%E6%80%A7%E7%96%BE%E6%82%A3%EF%BC%88Congenital_Disorders_of_N-Linked_Glycosylation_and_Multiple_Pathways%EF%BC%89\"><\/span>[\uff14_MPDU1]\u3000N\u578b\u7cd6\u9396\u4ed8\u52a0\u3068\u591a\u91cd\u7d4c\u8def\u306e\u5148\u5929\u6027\u75be\u60a3\uff08Congenital Disorders of N-Linked Glycosylation and Multiple Pathways\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/MPDU1-hgtIdeo_genome_292956_9c3510-1024x20.png\" alt=\"MPDU1\" class=\"wp-image-90335\"\/><\/figure><\/div>\n\n\n<div style=\"height:26px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>N\u578b\u7cd6\u9396\u578b\u5148\u5929\u6027\u7cd6\u9396\u4ed8\u52a0\u7570\u5e38\u75c7\u304a\u3088\u3073\u8907\u6570\u7d4c\u8def\u7570\u5e38\u75c7\uff08Congenital Disorders of N-Linked Glycosylation and Multiple Pathways\uff09\u306f\u3001\u5148\u5929\u6027\u7cd6\u9396\u4ed8\u52a0\u7570\u5e38\u75c7\uff08Congenital Disorders of Glycosylation, CDG\uff09\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u7cd6\u9396\u4fee\u98fe\u3068\u547c\u3070\u308c\u308b\u3001\u7cd6\u5206\u5b50\u304c\u30bf\u30f3\u30d1\u30af\u8cea\u3084\u8102\u8cea\u306b\u4ed8\u52a0\u3055\u308c\u308b\u904e\u7a0b\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002\u3053\u306e\u7cd6\u9396\u4fee\u98fe\u306f\u7d30\u80de\u6a5f\u80fd\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u305d\u306e\u7570\u5e38\u306f\u591a\u304f\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>CDG\u306f\u4e00\u822c\u7684\u306b\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u5178\u578b\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u767a\u80b2\u4e0d\u826f\u3001\u767a\u9054\u9045\u5ef6\u3001\u7b4b\u529b\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u809d\u81d3\u306e\u7570\u5e38\uff08\u809d\u969c\u5bb3\uff09\u3001\u795e\u7d4c\u5b66\u7684\u306a\u554f\u984c\uff08\u4f8b\u3048\u3070\u3051\u3044\u308c\u3093\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u773c\u306e\u7570\u5e38\u3001\u76ae\u819a\u306e\u72b6\u614b\uff08\u4f8b\u3048\u3070\u9b5a\u9c57\u766c\uff09\u3001\u514d\u75ab\u7cfb\u306e\u6a5f\u80fd\u4e0d\u5168\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u30b5\u30d6\u30bf\u30a4\u30d7\u306e1\u3064\u3067\u3042\u308bMPDU1-CDG\uff08\u5225\u79f0\uff1aCDG-If\uff09\u306f\u3001\u7cd6\u9396\u4fee\u98fe\u306e\u91cd\u8981\u306a\u904e\u7a0b\u3067\u3042\u308b\u7cd6\u5206\u5b50\u306e\u7d30\u80de\u819c\u3092\u8d8a\u3048\u305f\u8f38\u9001\u306b\u95a2\u308f\u308bMPDU1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"332\" height=\"208\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-O75352-F1.png\" alt=\"Mannose-P-dolichol utilization defect 1 protein\" class=\"wp-image-90344\" style=\"width:626px;height:auto\"\/><\/figure><\/div>\n\n\n<p>MPDU1-CDG\uff08CDG-If\u3068\u3082\u547c\u3070\u308c\u308b\uff09\u306f\u3001\u7cd6\u9396\u4ed8\u52a0\u969c\u5bb3\uff08CDG\uff09\u306e\u4e2d\u3067\u3082\u975e\u5e38\u306b\u307e\u308c\u306a\u30bf\u30a4\u30d7\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002CDG\u306f\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5408\u6210\u904e\u7a0b\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u591a\u7cfb\u7d71\u6027\u306e\u907a\u4f1d\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002\u3053\u306e\u7570\u5e38\u306b\u3088\u308a\u8840\u6e05\u4e2d\u306e\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5341\u5206\u306b\u7cd6\u9396\u5316\u3055\u308c\u305a\u3001\u767a\u751f\u904e\u7a0b\u3001\u7d30\u80de\u5206\u5316\u3001\u7d30\u80de\u6a5f\u80fd\u306e\u7dad\u6301\u306b\u91cd\u8981\u306aN\u578b\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u50cd\u304d\u304c\u640d\u306a\u308f\u308c\u308b\u305f\u3081\u3001\u5168\u8eab\u306b\u308f\u305f\u308b\u5f71\u97ff\u304c\u73fe\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>MPDU1-CDG\u306f\u3001MPDU1\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u5909\u7570\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u5185\u3067\u7279\u5b9a\u306e\u7cd6\u5206\u5b50\u3092\u8f38\u9001\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u7cd6\u9396\u5316\u306e\u91cd\u8981\u306a\u30b9\u30c6\u30c3\u30d7\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001\u9069\u5207\u306b\u7cd6\u9396\u5316\u3055\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3084\u8102\u8cea\u304c\u751f\u6210\u3055\u308c\u306a\u304f\u306a\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7b4b\u7dca\u5f35\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u4e7e\u71e5\u3084\u8d64\u307f\u3092\u4f34\u3046\u76ae\u819a\uff08\u9b5a\u9c57\u766c\u306a\u3069\uff09\u3001\u304a\u3088\u3073\u9854\u306e\u7279\u5fb4\u7684\u306a\u5909\u5f62\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u7121\u547c\u5438\u304c\u307f\u3089\u308c\u308b\u305f\u3081\u3001\u547c\u5438\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>MPDU1-CDG\u306e\u91cd\u75c7\u5ea6\u3084\u9032\u884c\u306e\u4ed5\u65b9\u306f\u500b\u3005\u306e\u60a3\u8005\u3084\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u4e00\u822c\u7684\u306b\u306f\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u795e\u7d4c\u5b66\u7684\u306a\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b\u307b\u304b\u3001\u8840\u6db2\u51dd\u56fa\u7570\u5e38\u3001\u514d\u75ab\u4e0d\u5168\u3001\u76ae\u819a\u306e\u7570\u5e38\u306a\u3069\u306e\u5168\u8eab\u7684\u306a\u554f\u984c\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u7cd6\u9396\u5316\u7570\u5e38\u304c\u795e\u7d4c\u7cfb\u3001\u9aa8\u683c\u3001\u514d\u75ab\u7cfb\u3092\u542b\u3080\u591a\u304f\u306e\u7cfb\u7d71\u306b\u8907\u96d1\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2654496_s.jpg\" alt=\"\u6c34\u5206\u88dc\u7d66\" class=\"wp-image-90349\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306f\u4e3b\u306b\u60a3\u8005\u306e\u500b\u3005\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u4e73\u5e7c\u5150\u671f\u306b\u304a\u3051\u308b\u6804\u990a\u7ba1\u7406\u306f\u91cd\u8981\u3067\u3001\u6442\u98df\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u306b\u306f\u7279\u6b8a\u306a\u30df\u30eb\u30af\u3084\u6804\u990a\u88dc\u52a9\u98df\u54c1\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u53e3\u8154\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\u306b\u3088\u308b\u5614\u5410\u304c\u7d9a\u304f\u5834\u5408\u306b\u306f\u3001\u6fc3\u3044\u3081\u306e\u98df\u54c1\u3084\u5236\u9178\u5264\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u5bfe\u51e6\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u6539\u5584\u3092\u56f3\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u76ee\u306e\u7570\u5e38\u304c\u3088\u304f\u307f\u3089\u308c\u308b\u305f\u3081\u3001\u773c\u79d1\u533b\u306b\u3088\u308b\u65e9\u671f\u306e\u8a3a\u5bdf\u3068\u5bfe\u5fdc\u304c\u8996\u529b\u306e\u7dad\u6301\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u814e\u6a5f\u80fd\u3084\u7532\u72b6\u817a\u6a5f\u80fd\u3082\u5408\u4f75\u75c7\u3068\u3057\u3066\u5f71\u97ff\u3092\u53d7\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u814e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u5c3f\u691c\u67fb\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3001\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\u3084\u86cb\u767d\u5c3f\u306a\u3069\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8840\u6db2\u51dd\u56fa\u7570\u5e38\u304c\u624b\u8853\u6642\u306b\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u4e8b\u524d\u306e\u8840\u6db2\u5b66\u7684\u306a\u76f8\u8ac7\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u8840\u6db2\u88fd\u5264\u3084\u8840\u6f3f\u8f38\u6ce8\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6025\u6027\u671f\u306e\u75c7\u72b6\u3001\u4f8b\u3048\u3070\u8133\u5352\u4e2d\u69d8\u306e\u767a\u4f5c\u3084\u91cd\u5ea6\u306e\u611f\u67d3\u75c7\u306e\u5834\u5408\u3001\u9759\u8108\u70b9\u6ef4\u3084\u8840\u7cd6\u5024\u306e\u5b89\u5b9a\u5316\u306a\u3069\u306e\u8fc5\u901f\u306a\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002\u7279\u306b\u7121\u547c\u5438\u306e\u7ba1\u7406\u306f\u91cd\u8981\u3067\u3001\u4e73\u5e7c\u5150\u306e\u4fdd\u8b77\u8005\u306b\u306f\u547c\u5438\u5668\u306e\u7dca\u6025\u4e8b\u614b\u306b\u5099\u3048\u305f\u5fdc\u6025\u51e6\u7f6e\u306e\u8a13\u7df4\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"424\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/4148704_s.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u767d\u7c89\" class=\"wp-image-90356\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MPDU1-CDG\u3092\u8a3a\u65ad\u3059\u308b\u305f\u3081\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3042\u308a\u3001\u4ed6\u306eCDG\u30b5\u30d6\u30bf\u30a4\u30d7\u3068\u306e\u9451\u5225\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u306b\u3088\u3063\u3066\u9069\u5207\u306a\u4ecb\u5165\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001\u4e88\u5f8c\u3084\u751f\u6d3b\u306e\u8cea\u306e\u6539\u5584\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u307e\u308c\u3067\u3042\u308b\u305f\u3081\u9577\u671f\u7684\u306a\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8a18\u9332\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u5305\u62ec\u7684\u306a\u30b1\u30a2\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u7ba1\u7406\u306b\u3088\u3063\u3066\u601d\u6625\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u60a3\u8005\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>MPDU1-CDG\u306e\u6cbb\u7642\u306b\u306f\u3001\u795e\u7d4c\u79d1\u3001\u6d88\u5316\u5668\u79d1\u3001\u773c\u79d1\u3001\u8840\u6db2\u79d1\u3001\u514d\u75ab\u79d1\u306a\u3069\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u9023\u643a\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u591a\u8077\u7a2e\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3088\u308a\u3001\u75be\u60a3\u304c\u5f15\u304d\u8d77\u3053\u3059\u591a\u5c90\u306b\u308f\u305f\u308b\u8ab2\u984c\u306b\u5bfe\u5fdc\u3057\u3001\u60a3\u8005\u306e\u5168\u4f53\u7684\u306a\u6cbb\u7642\u6210\u7e3e\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%95_TP53%E3%80%80%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E7%B4%A0%E5%9B%A0%E7%97%87%E5%80%99%E7%BE%A4%E3%80%81%E3%83%AA%E3%83%BB%E3%83%95%E3%83%A9%E3%82%A6%E3%83%A1%E3%83%8B%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Wilms_Tumor_Predisposition_Li-Faumeni_Syndrome%EF%BC%89\"><\/span>[\uff15_TP53]\u3000\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u7d20\u56e0\u75c7\u5019\u7fa4\u3001\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4\uff08Wilms Tumor Predisposition; Li-Faumeni Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/TP53-hgtIdeo_genome_3a3f4f_9cfe10-1024x20.png\" alt=\"TP53\" class=\"wp-image-90365\" style=\"width:1024px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4\uff08LFS\uff09\u306f\u3001\u82e5\u5e74\u3067\u304c\u3093\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u975e\u5e38\u306b\u9ad8\u304f\u306a\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7f79\u60a3\u3057\u305f\u4eba\u306f\u81ea\u5206\u306e\u5b50\u3069\u3082\u306b50%\u306e\u78ba\u7387\u3067\u3053\u306e\u75be\u60a3\u3092\u907a\u4f1d\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002LFS\u306f\u4e3b\u306bTP53\u907a\u4f1d\u5b50\u306e\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u5909\u7570\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u5206\u88c2\u3092\u8abf\u6574\u3057\u3001\u304c\u3093\u306e\u767a\u751f\u3092\u6291\u3048\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LFS\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u5bb6\u65cf\u5185\u3067\u304c\u3093\u306e\u767a\u75c7\u304c\u591a\u3044\u3053\u3068\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u53e4\u5178\u7684\u306a\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u300145\u6b73\u4ee5\u524d\u306b\u8089\u816b\uff08\u30b5\u30eb\u30b3\u30fc\u30de\uff09\u3092\u767a\u75c7\u3057\u305f\u60a3\u8005\uff08\u30d7\u30ed\u30d0\u30f3\u30c9\uff09\u304c\u3044\u308b\u3053\u3068\u300145\u6b73\u4ee5\u524d\u306b\u4f55\u3089\u304b\u306e\u304c\u3093\u3092\u767a\u75c7\u3057\u305f\u8fd1\u89aa\u8005\uff081\u89aa\u7b49\uff09\u304c\u3044\u308b\u3053\u3068\u3001\u3055\u3089\u306b45\u6b73\u4ee5\u524d\u306b\u304c\u3093\u3092\u767a\u75c7\u3057\u305f\u304b\u3001\u307e\u305f\u306f\u5e74\u9f62\u306b\u95a2\u4fc2\u306a\u304f\u8089\u816b\u3092\u767a\u75c7\u3057\u305f\u5225\u306e\u8fd1\u89aa\u8005\u304c\u3044\u308b\u3053\u3068\u304c\u6761\u4ef6\u3067\u3059\u3002\u3053\u308c\u306b\u985e\u4f3c\u3059\u308b\u304c\u3001\u57fa\u6e96\u3092\u5b8c\u5168\u306b\u306f\u6e80\u305f\u3055\u306a\u3044\u5834\u5408\u306f\u300c\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u69d8\u75c7\u5019\u7fa4\uff08LFL\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002LFS\u306b\u95a2\u9023\u3059\u308b\u304c\u3093\u3068\u3057\u3066\u306f\u3001\u4e73\u304c\u3093\u3001\u8edf\u90e8\u7d44\u7e54\u304a\u3088\u3073\u9aa8\u306e\u8089\u816b\u3001\u8133\u816b\u760d\uff08\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u30fc\u30de\u306a\u3069\uff09\u3001\u526f\u814e\u76ae\u8cea\u304c\u3093\u304c\u4ee3\u8868\u7684\u3067\u3001TP53\u5909\u7570\u3092\u6301\u3064\u4eba\u306e\u304c\u3093\u306e\u7d0480%\u3092\u5360\u3081\u307e\u3059\u3002\u4ed6\u306b\u3082\u767d\u8840\u75c5\u3001\u5927\u8178\u304c\u3093\u3001\u80c3\u304c\u3093\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3001\u60aa\u6027\u8449\u72b6\u816b\u760d\u3001\u8108\u7d61\u53e2\u4e73\u982d\u816b\u306a\u3069\u304c\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306f\u4e3b\u306b\u5c0f\u5150\u306b\u767a\u751f\u3059\u308b\u814e\u81d3\u306e\u304c\u3093\u3067\u3001LFS\u306b\u95a2\u9023\u3059\u308b\u304c\u3093\u306e\u4e00\u3064\u3067\u3059\u3002\u901a\u5e38\u306f\u5065\u5eb7\u305d\u3046\u306b\u898b\u3048\u308b\u5b50\u3069\u3082\u306e\u8179\u90e8\u816b\u7624\u3068\u3057\u3066\u73fe\u308c\u3001\u6642\u306b\u8179\u75db\u3001\u767a\u71b1\u3001\u8ca7\u8840\u3001\u8840\u5c3f\u3001\u9ad8\u8840\u5727\u3068\u3044\u3063\u305f\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e5\u301c10%\u306f\u4e21\u5074\u6027\u307e\u305f\u306f\u591a\u767a\u6027\u3067\u3001LFS\u306e\u3088\u3046\u306a\u907a\u4f1d\u7684\u7d20\u56e0\u3092\u6301\u3064\u5834\u5408\u3001\u305d\u306e\u767a\u751f\u7387\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306b\u306f\u7d44\u7e54\u5b66\u7684\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3001\u816b\u760d\u306f\u826f\u597d\u578b\u3068\u9000\u5f62\u6210\u578b\u306e2\u3064\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u9000\u5f62\u6210\u578b\u306f\u901a\u5e38\u3001\u4f53\u7d30\u80de\u306eTP53\u5909\u7570\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u4e88\u5f8c\u304c\u60aa\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306b\u306f\u624b\u8853\u3001\u5316\u5b66\u7642\u6cd5\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u653e\u5c04\u7dda\u7642\u6cd5\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3042\u308b\u3082\u306e\u306e\u3001\u5168\u4f53\u7684\u306a\u751f\u5b58\u7387\u306f90%\u4ee5\u4e0a\u3068\u975e\u5e38\u306b\u9ad8\u3044\u3067\u3059\u304c\u3001\u9000\u5f62\u6210\u578b\u3084\u9060\u9694\u8ee2\u79fb\u3092\u4f34\u3046\u5834\u5408\u306b\u306f\u4e88\u5f8c\u304c\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/3284194_s.jpg\" alt=\"fuku\" class=\"wp-image-90380\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>LFS\u306b\u304a\u3051\u308b\u304c\u3093\u306e\u30ea\u30b9\u30af\u306f\u5e74\u9f62\u306b\u5fdc\u3058\u3066\u5909\u5316\u3057\u307e\u3059\u3002\u5c0f\u5150\u671f\u306b\u306f\u526f\u814e\u76ae\u8cea\u304c\u3093\u3001\u6a2a\u7d0b\u7b4b\u8089\u816b\u3001\u8133\u816b\u760d\uff08\u8108\u7d61\u53e2\u4e73\u982d\u816b\u306a\u3069\uff09\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u9752\u5e74\u671f\u304b\u3089\u82e5\u5e74\u6210\u4eba\u671f\u306b\u306f\u4e73\u304c\u3093\u3001\u8089\u816b\u3001\u8133\u816b\u760d\u304c\u591a\u304f\u3001\u6210\u4eba\u5f8c\u671f\u306b\u306f\u81b5\u81d3\u304c\u3093\u3084\u524d\u7acb\u817a\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u4e00\u751f\u6daf\u306b\u304a\u3051\u308b\u304c\u3093\u767a\u75c7\u30ea\u30b9\u30af\u306f\u3001\u5973\u6027\u3067\u7d0490%\u3001\u7537\u6027\u3067\u7d0470%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u304c\u3093\u306e\u7d04\u534a\u6570\u306f40\u6b73\u4ee5\u524d\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u6cbb\u7642\u306e\u5f71\u97ff\u3084\u907a\u4f1d\u7684\u7d20\u56e0\u306b\u3088\u308a\u3001\u4e8c\u6b21\u304c\u3093\u306e\u30ea\u30b9\u30af\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>LFS\u306e\u7ba1\u7406\u306b\u306f\u3001\u304c\u3093\u4e88\u9632\u3001\u76e3\u8996\u3001\u6cbb\u7642\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u5973\u6027\u306b\u304a\u3044\u3066\u306f\u3001\u4e73\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u4e0b\u3052\u308b\u305f\u3081\u306b\u4e88\u9632\u7684\u4e73\u623f\u5207\u9664\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u76e3\u8996\u3068\u3057\u3066\u306f\u3001\u983b\u7e41\u306a\u8eab\u4f53\u691c\u67fb\u3001\u5168\u8eabMRI\u3001\u500b\u5225\u306e\u5bb6\u65cf\u6b74\u3084\u5e74\u9f62\u306b\u5fdc\u3058\u305f\u81d3\u5668\u7279\u7570\u7684\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u653e\u5c04\u7dda\u7642\u6cd5\u306f\u4e8c\u6b21\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u305f\u3081\u3001\u53ef\u80fd\u306a\u9650\u308a\u907f\u3051\u3089\u308c\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u7f79\u60a3\u5bb6\u65cf\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u652f\u63f4\u3067\u3042\u308a\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084\u4e88\u9632\u63aa\u7f6e\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002TP53\u5909\u7570\u306e\u691c\u67fb\u306b\u3088\u308a\u3001\u4fdd\u56e0\u8005\u3092\u7279\u5b9a\u3057\u3001\u65e9\u671f\u4ecb\u5165\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"407\" height=\"317\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-P04637-F12.png\" alt=\"Cellular tumor antigen p53\" class=\"wp-image-90374\" style=\"width:687px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u5973\u6027\u306b\u304a\u3044\u3066\u306f\u3001\u304c\u3093\u306e\u5146\u5019\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u305f\u3081\u306e\u614e\u91cd\u306a\u76e3\u8996\u304c\u5fc5\u8981\u3067\u3059\u3002TP53\u5909\u7570\u3092\u6301\u3064\u80ce\u5150\u306e\u76e3\u8996\u306b\u95a2\u3059\u308b\u7279\u5b9a\u306e\u63a8\u5968\u4e8b\u9805\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u51fa\u751f\u5f8c\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7a00\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u3001\u598a\u5a20\u6027\u7d68\u6bdb\u304c\u3093\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LFS\u306f\u3001\u500b\u5225\u5316\u533b\u7642\u3068\u7a4d\u6975\u7684\u306a\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u7f79\u60a3\u3057\u305f\u500b\u4eba\u3084\u5bb6\u65cf\u306e\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u9069\u5207\u306a\u53d6\u308a\u7d44\u307f\u304c\u6c42\u3081\u3089\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%96_WRAP53%E3%80%80%E3%83%87%E3%82%A3%E3%82%B9%E3%82%B1%E3%83%A9%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9%E5%85%88%E5%A4%A9%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E7%96%BE%E6%82%A3%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\"><\/span>[\uff16_WRAP53]\u3000\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3\uff08Dyskeratosis Congenita and Related Telomere Biology Disorders\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/36d311853ed1d911dbd2526bbc936b77-1024x20.png\" alt=\"WRAP53\u3000\" class=\"wp-image-90385\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u30fb\u30b3\u30f3\u30b8\u30a7\u30cb\u30bf\uff08Dyskeratosis Congenita, DC\uff09\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u969c\u5bb3\uff08Telomere Biology Disorders, TBD\uff09\u306f\u3001\u30c6\u30ed\u30e1\u30a2\u306e\u7dad\u6301\u6a5f\u80fd\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002\u30c6\u30ed\u30e1\u30a2\u306f\u67d3\u8272\u4f53\u306e\u672b\u7aef\u3092\u4fdd\u8b77\u3059\u308b\u69cb\u9020\u3067\u3001\u907a\u4f1d\u5b50\u306e\u5b89\u5b9a\u6027\u3068\u7d30\u80de\u306e\u5bff\u547d\u3092\u4fdd\u3064\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u3001\u7279\u306b<em>WRAP53<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u59a8\u3052\u3001\u591a\u69d8\u306a\u81e8\u5e8a\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><em>WRAP53<\/em>\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f5317p13\u306b\u4f4d\u7f6e\u3057\u3001\u30c6\u30ed\u30e1\u30e9\u30fc\u30bc\u30fb\u30ab\u30cf\u30fc\u30eb\u4f53\u30bf\u30f3\u30d1\u30af\u8cea1\uff08Telomerase Cajal Body Protein 1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30c6\u30ed\u30e1\u30a2\u5408\u6210\u3001DNA\u4fee\u5fa9\u3001\u816b\u760d\u6291\u5236\u30bf\u30f3\u30d1\u30af\u8ceap53\u306e\u8abf\u7bc0\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002p53\u7d4c\u8def\u306f\u3001\u7d30\u80de\u5468\u671f\u306e\u8abf\u7bc0\u3084DNA\u640d\u50b7\u3078\u306e\u5fdc\u7b54\u306b\u6b20\u304b\u305b\u306a\u3044\u4ed5\u7d44\u307f\u3067\u3059\u3002<em>WRAP53<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30c6\u30ed\u30e1\u30a2\u7dad\u6301\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\u306e\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u30fb\u30b3\u30f3\u30b8\u30a7\u30cb\u30bf\uff08DKCB3\uff09\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30c6\u30ed\u30e1\u30a2\u7dad\u6301\u306e\u7570\u5e38\u304c\u3069\u306e\u3088\u3046\u306b\u3057\u3066\u591a\u304f\u306e\u81d3\u5668\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u304b\u3092\u793a\u3059\u4ee3\u8868\u4f8b\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"320\" height=\"238\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q9BUR4-F1.png\" alt=\"Telomerase Cajal body protein 1\u3000\uff08WRAP53\uff09\" class=\"wp-image-90390\" style=\"width:614px;height:auto\"\/><\/figure><\/div>\n\n\n<p>DC\/TBD\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u975e\u5e38\u306b\u5e45\u5e83\u3044\u3067\u3059\u3002\u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u30fb\u30b3\u30f3\u30b8\u30a7\u30cb\u30bf\uff08DC\uff09\u306e\u53e4\u5178\u7684\u306a\u7279\u5fb4\u306f\u3001\u80f8\u90e8\u3084\u9996\u306b\u898b\u3089\u308c\u308b\u7db2\u76ee\u72b6\u306e\u8272\u7d20\u6c88\u7740\u3001\u722a\u306e\u5f62\u6210\u4e0d\u5168\u3001\u53e3\u8154\u5185\u767d\u677f\u75c7\u306e3\u3064\u306e\u75c7\u72b6\uff08\u4e09\u5fb4\u5019\uff09\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u3053\u306e\u4e09\u5fb4\u5019\u304c\u63c3\u3046\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u9032\u884c\u6027\u306e\u9aa8\u9ac4\u6a5f\u80fd\u4e0d\u5168\u3001\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\u3001\u6025\u6027\u767d\u8840\u75c5\u3001\u6241\u5e73\u4e0a\u76ae\u764c\uff08\u7279\u306b\u982d\u9838\u90e8\u3084\u809b\u9580\u751f\u6b96\u5668\u306b\u767a\u751f\u3059\u308b\u3082\u306e\uff09\u3001\u80ba\u7dda\u7dad\u75c7\u3001\u809d\u75be\u60a3\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u8ffd\u52a0\u7684\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ed6\u306b\u3082\u3001\u6d99\u76ee\u3001\u773c\u77bc\u7570\u5e38\uff08\u5185\u53cd\u3084\u5916\u53cd\u306a\u3069\uff09\u3001\u30bf\u30a6\u30ed\u30c9\u30f3\u30c6\u30a3\u30ba\u30e0\uff08\u6b6f\u6839\u306e\u5f62\u614b\u7570\u5e38\uff09\u3001\u80c3\u8178\u306e\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u75c7\u3001\u5927\u817f\u9aa8\u3084\u80a9\u306e\u7121\u8840\u7ba1\u6027\u58ca\u6b7b\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9aea\u306e\u65e9\u671f\u767d\u9aea\u5316\u3001\u9aa8\u7c97\u9b06\u75c7\u3001\u518d\u751f\u4e0d\u826f\u6027\u8ca7\u8840\u306a\u3069\u3082\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u75c7\u72b6\u306f\u5e7c\u5c11\u671f\uff085\u6b73\u304b\u308910\u6b73\u9803\uff09\u306b\u767a\u75c7\u3057\u3001\u9aa8\u9ac4\u6a5f\u80fd\u4e0d\u5168\u3001\u611f\u67d3\u75c7\u3001\u80ba\u5408\u4f75\u75c7\u3001\u3042\u308b\u3044\u306f\u60aa\u6027\u816b\u760d\u306b\u3088\u3063\u3066\u65e9\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>DKCB3\u306fDC\u306e\u4e00\u5f62\u614b\u3067\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u6301\u3061\u307e\u3059\u3002DC\u5168\u4f53\u3068\u3057\u3066\u306f\u3001X\u9023\u9396\u6027\u52a3\u6027\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e3\u3064\u306e\u907a\u4f1d\u5f62\u5f0f\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u69d8\u3005\u306a\u6c11\u65cf\u30b0\u30eb\u30fc\u30d7\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002DC\/TBD\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u30c6\u30ed\u30e1\u30a2\u7dad\u6301\u306e\u7570\u5e38\u306b\u3042\u308a\u3001\u3053\u308c\u304c\u4e0a\u76ae\u7d30\u80de\u3084\u9020\u8840\u7d30\u80de\u306e\u5897\u6b96\u3092\u59a8\u3052\u3001\u6700\u7d42\u7684\u306b\u7d30\u80de\u8001\u5316\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002DC\u306e\u7279\u5fb4\u3067\u3042\u308b\u8272\u7d20\u7570\u5e38\u306f\u3001\u8001\u5316\u3057\u305f\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u3067\u306e\u30e1\u30e9\u30cb\u30f3\u5408\u6210\u306e\u5897\u52a0\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u7cfb\u7d71\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u75be\u60a3\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5927\u90e8\u5206\u306e\u60a3\u8005\u306f\u6b63\u5e38\u306a\u904b\u52d5\u767a\u9054\u3084\u795e\u7d4c\u6a5f\u80fd\u3092\u7dad\u6301\u3057\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u767a\u9054\u9045\u5ef6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2891902_s.jpg\" alt=\"omutu on the table\" class=\"wp-image-90393\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DC\/TBD\u306e\u6cbb\u7642\u306f\u8907\u96d1\u3067\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u5408\u308f\u305b\u305f\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002\u9aa8\u9ac4\u79fb\u690d\uff08HCT\uff09\u306f\u9aa8\u9ac4\u6a5f\u80fd\u4e0d\u5168\u3084\u767d\u8840\u75c5\u306b\u5bfe\u3059\u308b\u552f\u4e00\u306e\u6839\u6cbb\u6cbb\u7642\u3067\u3059\u304c\u3001\u9577\u671f\u7684\u306a\u6cbb\u7642\u6bd2\u6027\u3092\u4f34\u3046\u30ea\u30b9\u30af\u304c\u5927\u304d\u3044\u3067\u3059\u3002\u9069\u5207\u306a\u30c9\u30ca\u30fc\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u306f\u3001\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u7642\u6cd5\u304c\u9aa8\u9ac4\u6a5f\u80fd\u4e0d\u5168\u306e\u4ee3\u66ff\u6cbb\u7642\u3068\u3057\u3066\u8003\u616e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u60aa\u6027\u816b\u760d\u3084\u80ba\u7dda\u7dad\u75c7\u306a\u3069\u3001\u4ed6\u306e\u5408\u4f75\u75c7\u306e\u6cbb\u7642\u306f\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u5fdc\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u80ba\u7dda\u7dad\u75c7\u304c\u91cd\u7be4\u306a\u5834\u5408\u306b\u306f\u3001\u80ba\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u304c\u3093\u6cbb\u7642\u306b\u306f\u9577\u671f\u7684\u306a\u8840\u7403\u6e1b\u5c11\u3084\u81d3\u5668\u6bd2\u6027\u3068\u3044\u3063\u305f\u8ffd\u52a0\u7684\u306a\u30ea\u30b9\u30af\u304c\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DC\/TBD\u306e\u7ba1\u7406\u306b\u306f\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u5e741\u56de\u306e\u8840\u7403\u6570\u691c\u67fb\u3084\u9aa8\u9ac4\u691c\u67fb\u3001\u304c\u3093\u691c\u8a3a\u3001\u80ba\u6a5f\u80fd\u691c\u67fb\u3001\u809d\u6a5f\u80fd\u306e\u8a55\u4fa1\u3092\u884c\u3044\u3001\u7279\u306b\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u7642\u6cd5\u3092\u53d7\u3051\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u809d\u6a5f\u80fd\u3084\u5185\u5206\u6ccc\u7cfb\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u53e3\u8154\u5185\u767d\u677f\u75c7\u3084\u4e8c\u6b21\u611f\u67d3\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u30016\u30ab\u6708\u3054\u3068\u306e\u6b6f\u79d1\u691c\u8a3a\u3068\u9069\u5207\u306a\u53e3\u8154\u30b1\u30a2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u55ab\u7159\u3084\u904e\u5270\u306a\u65e5\u5149\u66dd\u9732\u3001\u4e00\u90e8\u306e\u85ac\u5264\u306e\u4f7f\u7528\u3092\u907f\u3051\u308b\u3053\u3068\u3067\u3001\u816b\u760d\u767a\u751f\u3084\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u4e0b\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>DC\/TBD\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u767a\u751f\u983b\u5ea6\u306f\u4e00\u822c\u96c6\u56e3\u3067\u306f\u4e0d\u660e\u3067\u3059\u30022022\u5e743\u6708\u6642\u70b9\u3067\u3001\u4e16\u754c\u7684\u306b\u8a18\u9332\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f\u7d04800\uff5e1,000\u4ef6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u7a00\u5c11\u6027\u304b\u3089\u3001\u5c02\u9580\u7684\u306a\u30b1\u30a2\u3068\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%97_GUCY2D%E3%80%80%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E6%80%A7%E9%BB%92%E5%86%85%E9%9A%9C%E3%80%81%E6%97%A9%E7%99%BA%E6%80%A7%E9%87%8D%E5%BA%A6%E7%B6%B2%E8%86%9C%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%EF%BC%88Leber_Congenital_Amaurosis_Early-Onset_Severe_Retinal_Dystrophy%EF%BC%89\"><\/span>[\uff17_GUCY2D]\u3000\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\u3001\u65e9\u767a\u6027\u91cd\u5ea6\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Leber Congenital Amaurosis; Early-Onset Severe Retinal Dystrophy\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/bb7ac4deb7bd804b58aa3e25016a14d2-1024x20.png\" alt=\"GUCY2D\u3000\u3000\" class=\"wp-image-90401\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c1\u578b\uff08LCA1\uff09\u306f\u3001\u67d3\u8272\u4f5317p13.1\u4e0a\u306b\u4f4d\u7f6e\u3059\u308bGUCY2D\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u91cd\u5ea6\u306e\u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8996\u7d30\u80de\uff08\u5149\u3092\u611f\u77e5\u3059\u308b\u7db2\u819c\u306e\u7d30\u80de\uff09\u306e\u68d2\u4f53\u304a\u3088\u3073\u9310\u4f53\u5185\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u300c\u7db2\u819c\u30b0\u30a2\u30cb\u30eb\u9178\u30b7\u30af\u30e9\u30fc\u30bc1\uff08RETGC-1\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001cGMP\uff08\u74b0\u72b6\u30b0\u30a2\u30ce\u30b7\u30f3\u4e00\u30ea\u30f3\u9178\uff09\u3068\u547c\u3070\u308c\u308b\u5206\u5b50\u3092\u751f\u6210\u3059\u308b\u50cd\u304d\u3092\u6301\u3061\u3001\u7db2\u819c\u3067\u5149\u3092\u96fb\u6c17\u4fe1\u53f7\u306b\u5909\u63db\u3059\u308b\u300c\u8996\u899a\u4f1d\u9054\uff08\u5149\u53d7\u5bb9\u306e\u56de\u5fa9\u904e\u7a0b\uff09\u300d\u306e\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u7d30\u80de\u306e\u5916\u7bc0\u819c\u3078\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002RETGC-1\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3068\u3001\u8996\u7d30\u80de\u304c\u6b63\u3057\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u7db2\u819c\u304c\u6df1\u523b\u306a\u5909\u6027\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>LCA1\u306f\u901a\u5e38\u3001\u751f\u5f8c\u307e\u305f\u306f\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u300c\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\uff08LCA\uff09\u300d\u3084\u300c\u65e9\u671f\u767a\u75c7\u578b\u91cd\u75c7\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08EOSRD\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75c5\u614b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e00\u90e8\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002LCA\u306e\u4e2d\u3067\u3082\u7279\u306b\u91cd\u75c7\u306aLCA1\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u8457\u3057\u3044\u8996\u529b\u4f4e\u4e0b\u3084\u5931\u660e\u3092\u7279\u5fb4\u3068\u3057\u3001\u968f\u610f\u3067\u306f\u306a\u3044\u773c\u7403\u904b\u52d5\uff08\u773c\u632f\uff09\u3001\u5149\u306b\u5bfe\u3059\u308b\u77b3\u5b54\u53cd\u5fdc\u306e\u920d\u3055\u307e\u305f\u306f\u6b20\u5982\u3001\u76ee\u3092\u3053\u3059\u308b\u3001\u62bc\u3059\u3001\u307e\u305f\u306f\u7a81\u304f\u306a\u3069\u306e\u884c\u52d5\uff08\u773c\u30c7\u30b8\u30bf\u30eb\u30b5\u30a4\u30f3\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5149\u904e\u654f\u75c7\uff08\u307e\u3076\u3057\u3055\uff09\u3001\u5f37\u3044\u9060\u8996\u3001\u5186\u9310\u89d2\u819c\uff08\u89d2\u819c\u304c\u5186\u9310\u72b6\u306b\u5909\u5f62\u3059\u308b\u75c7\u72b6\uff09\u3001\u305d\u3057\u3066\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u7db2\u819c\u306e\u8272\u7d20\u5909\u5316\u306a\u3069\u306e\u75c7\u72b6\u3082\u73fe\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u8996\u899a\u6a5f\u80fd\u3092\u6e2c\u5b9a\u3059\u308b\u96fb\u6c17\u7db2\u819c\u56f3\uff08ERG\uff09\u3067\u306f\u3001\u307b\u3068\u3093\u3069\u307e\u305f\u306f\u5168\u304f\u53cd\u5fdc\u304c\u691c\u51fa\u3055\u308c\u306a\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"341\" height=\"247\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q02846-F1.png\" alt=\"Retinal guanylyl cyclase 1\" class=\"wp-image-90414\" style=\"width:679px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306b\u306f\u7db2\u819c\u306e\u898b\u305f\u76ee\u304c\u6b63\u5e38\u306b\u898b\u3048\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52a0\u9f62\u3068\u3068\u3082\u306b\u8272\u7d20\u6027\u7db2\u819c\u75c7\u3001\u8840\u7ba1\u306e\u72ed\u7a84\u3001\u9ec4\u6591\u840e\u7e2e\u3001\u8996\u795e\u7d4c\u306e\u84bc\u767d\u5316\u306a\u3069\u306e\u9032\u884c\u6027\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u8996\u795e\u7d4c\u4e73\u982d\u30c9\u30eb\u30fc\u30bc\u30f3\u3084\u6c34\u6676\u4f53\u6df7\u6fc1\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u8d77\u3053\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001LCA1\u3067\u306f\u8996\u899a\u6a5f\u80fd\u306b\u5927\u304d\u306a\u969c\u5bb3\u304c\u3042\u3063\u3066\u3082\u3001\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u3067\u78ba\u8a8d\u3055\u308c\u308b\u7db2\u819c\u69cb\u9020\u306f\u6bd4\u8f03\u7684\u3088\u304f\u4fdd\u5b58\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001RETGC-1\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u6cbb\u7642\u304c\u8996\u529b\u6539\u5584\u306b\u6709\u52b9\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LCA\u306e\u767a\u751f\u7387\u306f\u7d0480,000\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3001GUCY2D\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u5168\u75c7\u4f8b\u306e6\u301c21\uff05\u3092\u5360\u3081\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3059\u308b\u305f\u3081\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u30602\u3064\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002LCA1\u306e\u8996\u529b\u306f\u901a\u5e38\u3001\u5149\u3092\u5168\u304f\u611f\u3058\u306a\u3044\u72b6\u614b\u304b\u3089\u6700\u5927\u3067\u30820.05\uff0820\/400\uff09\u7a0b\u5ea6\u3067\u3042\u308a\u3001\u81ea\u7136\u306a\u8996\u529b\u56de\u5fa9\u306e\u53ef\u80fd\u6027\u306f\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"425\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/23345363_s.jpg\" alt=\"\u30d4\u30a2\u30ce\" class=\"wp-image-90411\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>LCA1\u304a\u3088\u3073\u95a2\u9023\u75be\u60a3\u306e\u7ba1\u7406\u306b\u306f\u3001\u3055\u307e\u3056\u307e\u306a\u5c02\u9580\u5206\u91ce\u3092\u7d71\u5408\u3057\u305f\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002\u767a\u75c7\u65e9\u671f\u304b\u3089\u767a\u9054\u652f\u63f4\u3084\u5f31\u8996\u30ea\u30cf\u30d3\u30ea\u30b5\u30fc\u30d3\u30b9\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u826f\u3044\u7d50\u679c\u3092\u5f97\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002\u6559\u80b2\u5c02\u9580\u5bb6\u3084\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u4f5c\u696d\u7642\u6cd5\u58eb\u306e\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3084\u3001\u8996\u899a\u88dc\u52a9\u6a5f\u5668\u3092\u5229\u7528\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u884c\u52d5\u7642\u6cd5\u3084\u767a\u9054\u652f\u63f4\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3082\u6709\u52b9\u3067\u3059\u3002\u6210\u9577\u306b\u4f34\u3044\u3001\u5c31\u52b4\u652f\u63f4\u3084\u7d4c\u6e08\u7684\u63f4\u52a9\u306a\u3069\u306e\u8ffd\u52a0\u7684\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u5206\u91ce\u3067\u6709\u671b\u306a\u9032\u5c55\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001GUCY2D\u907a\u4f1d\u5b50\u306e\u6b63\u5e38\u306a\u30b3\u30d4\u30fc\u3092\u8996\u7d30\u80de\u306b\u5c0e\u5165\u3059\u308b\u3053\u3068\u3067RETGC-1\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u6cbb\u7642\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002ATSN-101\u306e\u3088\u3046\u306a\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306f\u3001\u3053\u308c\u307e\u3067\u6cbb\u7642\u304c\u56f0\u96e3\u3068\u3055\u308c\u3066\u304d\u305fLCA1\u306e\u60a3\u8005\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u5e0c\u671b\u3092\u3082\u305f\u3089\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u6cbb\u7642\u306b\u3088\u3063\u3066\u3001\u8996\u529b\u3092\u4fdd\u6301\u307e\u305f\u306f\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%98_ALOX12B%EF%BC%99_ALOXE3%E3%80%80%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E5%8A%A3%E6%80%A7%E5%85%88%E5%A4%A9%E6%80%A7%E9%AD%9A%E9%B1%97%E7%99%AC%EF%BC%88Autosomal_Recessive_Congenital_Ichthyosis%EF%BC%89\"><\/span>[\uff18_ALOX12B,\uff19_ALOXE3]\u3000\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08Autosomal Recessive Congenital Ichthyosis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/914c4c8d56eda28fc6f3cda72e7544a8-1024x20.png\" alt=\"ALOX12B\u3000\" class=\"wp-image-90421\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/85ff3cf0647d2c8a5c13dc7a20e85d2c-1-1024x20.png\" alt=\"\" class=\"wp-image-90427\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08ARCI\uff09\u306f\u3001\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3001\u7279\u306bALOX12B\u3084ALOXE3\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u76ae\u819a\u75be\u60a3\u306e\u4e00\u7fa4\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u3001\u76ae\u819a\u306e\u4fdd\u8b77\u30d0\u30ea\u30a2\u3092\u5f62\u6210\u3057\u7dad\u6301\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u9175\u7d20\u306e\u50cd\u304d\u3092\u59a8\u3052\u307e\u3059\u3002ARCI\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u307e\u305f\u306f\u4e73\u5e7c\u5150\u671f\u65e9\u671f\u306b\u898b\u3089\u308c\u308b\u7570\u5e38\u306a\u76ae\u819a\u306e\u9c57\u72b6\u306e\u5265\u304c\u308c\uff08\u89d2\u5316\u4ea2\u9032\uff09\u3084\u76ae\u819a\u306e\u8d64\u307f\uff08\u7d05\u6591\uff09\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u306f\u3001\u91cd\u75c7\u5ea6\u3084\u75c7\u72b6\u306e\u898b\u305f\u76ee\u304c\u7570\u306a\u308b\u3044\u304f\u3064\u304b\u306e\u4e9c\u578b\u304c\u542b\u307e\u308c\u3001\u305d\u306e\u4e2d\u306b\u306f\u30e9\u30e1\u30e9\u578b\u9b5a\u9c57\u766c\uff08LI\uff09\u3084\u5148\u5929\u6027\u9b5a\u9c57\u766c\u69d8\u7d05\u76ae\u75c7\uff08CIE\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"289\" height=\"223\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-O75342-F1.png\" alt=\"\" class=\"wp-image-90450\" style=\"width:591px;height:auto\"\/><\/figure><\/div>\n\n\n<p>ALOX12B\u907a\u4f1d\u5b50\u306f\u30a2\u30e9\u30ad\u30c9\u30f3\u917812\u30ea\u30dd\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u76ae\u819a\u7d30\u80de\uff08\u89d2\u8cea\u7d30\u80de\uff09\u306e\u8102\u8cea\u30a8\u30f3\u30d9\u30ed\u30fc\u30d7\u3092\u5f62\u6210\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u30aa\u30e1\u30ac-\u30d2\u30c9\u30ed\u30ad\u30b7\u30bb\u30e9\u30df\u30c9\u3092\u4fee\u98fe\u3057\u307e\u3059\u3002\u3053\u306e\u4fee\u98fe\u306f\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u306e\u6c34\u5206\u4fdd\u6301\u6a5f\u80fd\u3084\u5916\u7684\u523a\u6fc0\u304b\u3089\u306e\u4fdd\u8b77\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002ALOX12B\u306e\u5909\u7570\u306b\u3088\u308a\u3053\u308c\u3089\u306e\u904e\u7a0b\u304c\u59a8\u3052\u3089\u308c\u308b\u3068\u3001ARCI2\u3068\u547c\u3070\u308c\u308bARCI\u306e\u4e00\u578b\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u8584\u304f\u5149\u6ca2\u306e\u3042\u308b\u300c\u30b3\u30ed\u30b8\u30aa\u30f3\u819c\u300d\u306b\u5305\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u306e\u819c\u306f\u6642\u9593\u3068\u3068\u3082\u306b\u5265\u304c\u308c\u843d\u3061\u3001LI\u3084CIE\u306b\u7279\u5fb4\u7684\u306a\u76ae\u819a\u306e\u9c57\u72b6\u5316\u3084\u8d64\u307f\u304c\u73fe\u308c\u307e\u3059\u3002ALOX12B\u306e\u5909\u7570\u3092\u6301\u3064\u591a\u304f\u306e\u4eba\u306f\u3001\u7d30\u304b\u3044\u9c57\u72b6\u306e\u5265\u304c\u308c\u3068\u7d05\u6591\u3092\u7279\u5fb4\u3068\u3059\u308b\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306eCIE\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"266\" height=\"240\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q9BYJ1-F1.png\" alt=\"Hydroperoxide isomerase ALOXE3\" class=\"wp-image-90453\" style=\"width:606px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u540c\u69d8\u306b\u3001ALOXE3\u907a\u4f1d\u5b50\u306f\u30d2\u30c9\u30ed\u30da\u30eb\u30aa\u30ad\u30b7\u30c9\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306fALOX12B\u306e\u4e0b\u6d41\u3067\u540c\u3058\u8102\u8cea\u4fee\u98fe\u7d4c\u8def\u306b\u95a2\u4e0e\u3057\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u306e\u5f62\u6210\u3092\u52a9\u3051\u308b\u7279\u6b8a\u306a\u8102\u8cea\u8a98\u5c0e\u4f53\u3092\u751f\u6210\u3057\u307e\u3059\u3002ALOXE3\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306fARCI3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001LI\u3068CIE\u306e\u91cd\u8907\u3057\u305f\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002ALOXE3\u306e\u5909\u7570\u3092\u6301\u3064\u4eba\u306e\u7d043\u5206\u306e1\u306f\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u30b3\u30ed\u30b8\u30aa\u30f3\u819c\u306b\u5305\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u5f8c\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306eCIE\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/3039610_s.jpg\" alt=\"\u52a0\u6e7f\u5668\" class=\"wp-image-90456\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARCI\u306e\u4e73\u5150\u306f\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u304c\u640d\u306a\u308f\u308c\u3066\u3044\u308b\u305f\u3081\u306b\u591a\u304f\u306e\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u306b\u76f4\u9762\u3057\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u8d64\u3061\u3083\u3093\u306f\u30b3\u30ed\u30b8\u30aa\u30f3\u819c\u306b\u5305\u307e\u308c\u3066\u304a\u308a\u3001\u8131\u6c34\u75c7\u72b6\u3001\u4f53\u6e29\u8abf\u7bc0\u4e0d\u5168\u3001\u611f\u67d3\u75c7\u3001\u547c\u5438\u5668\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u3053\u306e\u819c\u306f\u6642\u9593\u3068\u3068\u3082\u306b\u5265\u304c\u308c\u843d\u3061\u3001\u5168\u8eab\u306b\u5e83\u304c\u308b\u9c57\u72b6\u5316\u3084\u7d05\u6591\u306b\u79fb\u884c\u3057\u307e\u3059\u3002\u91cd\u75c7\u578b\u3067\u3042\u308b\u30cf\u30fc\u30ec\u30af\u30a4\u30f3\u9b5a\u9c57\u766c\u3067\u306f\u3001\u539a\u3044\u76ae\u819a\u306e\u677f\u3068\u6df1\u3044\u4e80\u88c2\u304c\u5f62\u6210\u3055\u308c\u3001\u547d\u306b\u95a2\u308f\u308b\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u96c6\u4e2d\u7684\u306a\u65b0\u751f\u5150\u30b1\u30a2\u3084\u30ec\u30c1\u30ce\u30a4\u30c9\u306a\u3069\u306e\u5168\u8eab\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>ARCI\u306e\u7ba1\u7406\u306f\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u306e\u640d\u50b7\u306b\u3088\u308b\u5f71\u97ff\u3092\u8efd\u6e1b\u3059\u308b\u3053\u3068\u306b\u91cd\u70b9\u3092\u7f6e\u3044\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u9ad8\u6e7f\u5ea6\u74b0\u5883\u3067\u306e\u4fdd\u6e7f\u3001\u885b\u751f\u7684\u7ba1\u7406\u306b\u3088\u308b\u611f\u67d3\u4e88\u9632\u3001\u75db\u307f\u3084\u4ee3\u8b1d\u7570\u5e38\u306e\u30b1\u30a2\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u65e9\u671f\u306b\u4fdd\u6e7f\u5264\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u76ae\u819a\u30d0\u30ea\u30a2\u3092\u5f37\u5316\u3057\u3001\u5408\u4f75\u75c7\u3084\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u306a\u3069\u306e\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/24754947_s.jpg\" alt=\"kuri-mu \" class=\"wp-image-90462\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARCI\u306e\u8efd\u5ea6\u306e\u578b\u3067\u306f\u3001\u75c7\u72b6\u304c\u6642\u9593\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e7e\u71e5\u808c\u3084\u8efd\u5ea6\u306e\u9c57\u72b6\u5316\u3001\u89d2\u5316\u4ea2\u9032\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u30cf\u30fc\u30ec\u30af\u30a4\u30f3\u9b5a\u9c57\u766c\u306e\u3088\u3046\u306a\u91cd\u75c7\u578b\u3067\u306f\u3001\u6162\u6027\u7684\u306a\u76ae\u819a\u306e\u708e\u75c7\u3001\u71b1\u3078\u306e\u8010\u6027\u4f4e\u4e0b\u3001\u95a2\u7bc0\u306e\u62d8\u7e2e\u3001\u773c\u306e\u7570\u5e38\u306a\u3069\u304c\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u4eba\u3067\u306f\u3001\u76ae\u819a\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u7684\u306a\u76e3\u8996\u3068\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>ARCI\u306e\u8907\u96d1\u6027\u3092\u8003\u3048\u308b\u3068\u3001\u8a3a\u65ad\u306e\u305f\u3081\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u500b\u5225\u5316\u3055\u308c\u305f\u6cbb\u7642\u8a08\u753b\u3001\u304a\u3088\u3073\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u3084\u751f\u5316\u5b66\u7684\u6b20\u9665\u3092\u6a19\u7684\u3068\u3057\u305f\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u91cd\u8981\u3067\u3059\u3002\u65b0\u751f\u5150\u30b1\u30a2\u306e\u9032\u6b69\u3068\u65e9\u671f\u4ecb\u5165\u6226\u7565\u306b\u3088\u308a\u3001\u3053\u306e\u56f0\u96e3\u306a\u75be\u60a3\u3092\u62b1\u3048\u308b\u4eba\u3005\u306e\u4e88\u5f8c\u306f\u6539\u5584\u3057\u7d9a\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%90_HES7%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%83%98%E3%83%AB%E3%83%8B%E3%82%A2%E3%80%81%E8%84%8A%E8%82%8B%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%88Congenital_Diaphragmatic_Hernia_Spondylocostal_Dysostosis%EF%BC%89\"><\/span>[\uff11\uff10_HES7]\u3000\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3001\u810a\u808b\u9aa8\u7570\u5f62\u6210\u75c7\uff08Congenital Diaphragmatic Hernia; Spondylocostal Dysostosis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/7864d279317eef7c0c28d7891e5777f9-1024x20.png\" alt=\"HES7\u3000\" class=\"wp-image-90474\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u810a\u808b\u9aa8\u767a\u80b2\u7570\u5e38\u75c7\u30bf\u30a4\u30d74\uff08Spondylocostal Dysostosis Type 4\u3001SCDO4\uff09\u304a\u3088\u3073\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia\u3001CDH\uff09\u306f\u3001HES7\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u8ee2\u5199\u56e0\u5b50HES-7\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001DNA\u8ee2\u5199\u306e\u8abf\u7bc0\u3084\u3001\u8eab\u4f53\u306e\u69d8\u3005\u306a\u69cb\u9020\u3092\u5f62\u6210\u3059\u308b\u4e2d\u80da\u8449\u3068\u3044\u3046\u5c64\u306e\u767a\u80b2\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002HES-7\u306f\u3001\u7279\u5b9a\u306eDNA\u9818\u57df\uff08N\u30dc\u30c3\u30af\u30b9\u304a\u3088\u3073E\u30dc\u30c3\u30af\u30b9\u3092\u542b\u3080\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\uff09\u306b\u4f5c\u7528\u3059\u308b\u8ee2\u5199\u6291\u5236\u56e0\u5b50\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u91cd\u7be4\u306a\u767a\u80b2\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"291\" height=\"225\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q9BYE0-F1.png\" alt=\"Transcription factor HES-7\" class=\"wp-image-90479\" style=\"width:621px;height:auto\"\/><\/figure><\/div>\n\n\n<p>SCDO4\u306f\u3001\u80da\u767a\u751f\u4e2d\u306b\u8d77\u3053\u308b\u5206\u7bc0\u7570\u5e38\u306b\u3088\u308a\u3001\u810a\u690e\u3084\u808b\u9aa8\u306e\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u8eab\u9577\u306b\u6bd4\u3079\u3066\u80f4\u4f53\u304c\u77ed\u3044\u3053\u3068\u3001\u9996\u304c\u77ed\u3044\u3053\u3068\u3001\u8efd\u5ea6\u3067\u9032\u884c\u3057\u306a\u3044\u5074\u5f2f\u75c7\u3001\u810a\u690e\u306e\u7652\u5408\u3001\u534a\u690e\u9aa8\uff08\u810a\u690e\u306e\u4e00\u90e8\u304c\u4e0d\u5b8c\u5168\u306b\u5f62\u6210\u3055\u308c\u308b\u72b6\u614b\uff09\u3001\u808b\u9aa8\u306e\u5f8c\u65b9\u7652\u5408\u3001\u808b\u9aa8\u306e\u6570\u306e\u6e1b\u5c11\u3084\u5f62\u614b\u7570\u5e38\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u306e\u5834\u5408\u3001\u80f8\u90ed\u304c\u5c0f\u3055\u3044\u305f\u3081\u306b\u547c\u5438\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u96c6\u4e2d\u6cbb\u7642\u3092\u5fc5\u8981\u3068\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u30012\u6b73\u9803\u307e\u3067\u306b\u80ba\u306e\u6210\u9577\u304c\u6539\u5584\u3057\u3001\u6bd4\u8f03\u7684\u6b63\u5e38\u306a\u767a\u80b2\u304c\u53ef\u80fd\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u3067\u3082\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u6162\u6027\u7684\u306a\u547c\u5438\u4e0d\u5168\u3001\u80ba\u9ad8\u8840\u5727\u75c7\u3001\u5fc3\u81d3\u306e\u554f\u984c\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001SCDO4\u306e\u7537\u6027\u306f\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001\u8fc5\u901f\u306a\u6cbb\u7642\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SCDO\u306e\u8a3a\u65ad\u306f\u901a\u5e38\u3001X\u7dda\u64ae\u5f71\u3067\u884c\u308f\u308c\u3001\u810a\u690e\u306e\u5206\u7bc0\u7570\u5e38\u3084\u808b\u9aa8\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001HES7\u3092\u542b\u3080\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u6cbb\u7642\u306b\u306f\u3001\u91cd\u5ea6\u306e\u5074\u5f2f\u75c7\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u4ecb\u5165\u3001\u6025\u6027\u304a\u3088\u3073\u6162\u6027\u306e\u547c\u5438\u4e0d\u5168\u306b\u5bfe\u3059\u308b\u547c\u5438\u88dc\u52a9\u3001\u6210\u9577\u3001\u810a\u690e\u306e\u6e7e\u66f2\u3001\u547c\u5438\u6a5f\u80fd\u3001\u795e\u7d4c\u5b66\u7684\u554f\u984c\u306a\u3069\u306e\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u907a\u4f1d\u5b50\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3082\u91cd\u8981\u3067\u3001HES7\u5909\u7570\u306b\u3088\u308bSCDO\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u305f\u3081\u3001\u30ea\u30b9\u30af\u306e\u3042\u308b\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u4fdd\u56e0\u8005\u691c\u67fb\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304c\u53ef\u80fd\u3067\u3059\u3002\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u598a\u5a2013\u9031\u9803\u304b\u3089\u810a\u690e\u306e\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u7279\u306b\u3053\u306e\u7570\u5e38\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u5834\u5408\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/29479466_s.jpg\" alt=\"hone\" class=\"wp-image-90488\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CDH\u306f\u3001HES7\u95a2\u9023\u306eSCDO\u306e\u7a00\u306a\u75c7\u4f8b\u3067\u898b\u3089\u308c\u308b\u6a2a\u9694\u819c\u306e\u767a\u80b2\u7570\u5e38\u3067\u3059\u3002\u6a2a\u9694\u819c\u306e\u5f62\u6210\u3084\u7b4b\u8089\u5316\u304c\u4e0d\u5b8c\u5168\u3067\u3001\u6a2a\u9694\u819c\u7d44\u7e54\u304c\u6b20\u640d\u307e\u305f\u306f\u4e0d\u8db3\u3057\u3066\u3044\u308b\u72b6\u614b\u3001\u307e\u305f\u306f\u6a2a\u9694\u819c\u304c\u8584\u304f\u306a\u308a\u7570\u5e38\u306b\u4e0a\u6607\u3059\u308b\u72b6\u614b\uff08\u6319\u4e0a\uff09\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u751f\u307e\u308c\u305f\u6642\u70b9\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u51fa\u751f1\u4e07\u4eba\u3042\u305f\u308a\u7d043\u301c3.6\u4f8b\u306e\u5272\u5408\u3067\u767a\u751f\u3057\u307e\u3059\u3002HES7\u95a2\u9023\u306eSCDO\u3067\u306f\u3001CDH\u306f10%\u672a\u6e80\u306e\u30b1\u30fc\u30b9\u3067\u898b\u3089\u308c\u307e\u3059\u3002CDH\u306e\u65b0\u751f\u5150\u7ba1\u7406\u3067\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u9069\u5207\u306a\u547c\u5438\u88dc\u52a9\u304c\u5fc5\u8981\u3067\u3001\u751f\u547d\u3092\u8105\u304b\u3059\u547c\u5438\u4e0d\u5168\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306e\u5c02\u9580\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7dcf\u3058\u3066\u3001HES7\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u521d\u671f\u306e\u80da\u767a\u751f\u3084\u8ee2\u5199\u8abf\u7bc0\u304c\u810a\u690e\u3001\u808b\u9aa8\u3001\u6a2a\u9694\u819c\u306e\u5f62\u6210\u306b\u5bc6\u63a5\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u591a\u69d8\u306a\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u9069\u5207\u306a\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%91_TMEM107%E3%80%80%E3%83%A1%E3%83%83%E3%82%B1%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A413%EF%BC%88Meckel_syndrome_13%E3%83%BB%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4_Joubert_Syndrome%EF%BC%89\"><\/span>[\uff11\uff11_TMEM107]\u3000\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa413\uff08Meckel syndrome 13\u30fb\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4 Joubert Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/4790584e41e43728148c11aaf339aacc-1024x20.png\" alt=\"TMEM107\" class=\"wp-image-90493\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa413\u306f\u3001TMEM107\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u975e\u5e38\u306b\u7a00\u3067\u91cd\u7be4\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u56a2\u80de\u6027\u814e\u75be\u60a3\u3001\u5927\u8133\u5947\u5f62\uff08\u7279\u306b\u5f8c\u982d\u90e8\u306e\u8133\u7624\uff09\u3001\u304a\u3088\u3073\u809d\u81d3\u306e\u7dda\u7dad\u5316\uff08\u7ba1\u677f\u5f62\u6210\u7570\u5e38\u306b\u3088\u308b\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u591a\u6307\u75c7\uff08\u6307\u3084\u8db3\u306e\u6307\u304c\u901a\u5e38\u3088\u308a\u591a\u3044\u72b6\u614b\uff09\u3084\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff08\u904b\u52d5\u8abf\u6574\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u8133\u306e\u7570\u5e38\uff09\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u6b8b\u5ff5\u306a\u304c\u3089\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306f\u6975\u3081\u3066\u81f4\u6b7b\u6027\u304c\u9ad8\u304f\u3001\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u306f\u51fa\u751f\u524d\u307e\u305f\u306f\u751f\u5f8c\u9593\u3082\u306a\u304f\u547d\u3092\u843d\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"304\" height=\"203\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q6UX40-F1.png\" alt=\"Transmembrane protein 107\" class=\"wp-image-90502\" style=\"width:642px;height:auto\"\/><\/figure><\/div>\n\n\n<p>TMEM107\u907a\u4f1d\u5b50\u306f\u3001\u30c8\u30e9\u30f3\u30b9\u30e1\u30f3\u30d6\u30e9\u30f3\u30bf\u30f3\u30d1\u30af\u8cea107\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u8868\u9762\u306b\u5b58\u5728\u3059\u308b\u300c\u7e4a\u6bdb\u300d\u3068\u547c\u3070\u308c\u308b\u5c0f\u3055\u306a\u6bdb\u72b6\u306e\u69cb\u9020\u306e\u5f62\u6210\u3068\u6a5f\u80fd\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7e4a\u6bdb\u306f\u3001SHH\u3001WNT\u3001PDGF\u3068\u3044\u3063\u305f\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7d4c\u8def\u306f\u3001\u795e\u7d4c\u7cfb\u3084\u9aa8\u683c\u306e\u5f62\u6210\u3001\u3055\u3089\u306b\u306f\u9854\u9762\u3084\u982d\u84cb\u306e\u767a\u9054\u306a\u3069\u3001\u591a\u304f\u306e\u91cd\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002TMEM107\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u7e4a\u6bdb\u306e\u5f62\u6210\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u7e4a\u6bdb\u306e\u6570\u304c\u6e1b\u5c11\u3057\u3001\u7570\u5e38\u306b\u9577\u304f\u306d\u3058\u308c\u305f\u69cb\u9020\u306b\u306a\u308b\u3068\u3044\u3063\u305f\u6b20\u9665\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u306e\u7e4a\u6bdb\u306e\u7570\u5e38\u304c\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b\u91cd\u7be4\u306a\u767a\u9054\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306f\u3001\u300c\u7e4a\u6bdb\u75c5\u300d\u3068\u547c\u3070\u308c\u308b\u4e00\u7fa4\u306e\u75be\u60a3\u306b\u5c5e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u4e2d\u306b\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\uff08JS\uff09\u3082\u542b\u307e\u308c\u307e\u3059\u3002JS\u306f\u4e00\u822c\u7684\u306b\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u307b\u3069\u91cd\u75c7\u3067\u306f\u306a\u304f\u3001\u5e7c\u5c11\u671f\u3084\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u8133\u306e\u5947\u5f62\u3001\u591a\u6307\u75c7\u3001\u809d\u81d3\u3084\u814e\u81d3\u306e\u6a5f\u80fd\u7570\u5e38\u306a\u3069\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3068\u591a\u304f\u306e\u5171\u901a\u70b9\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u3001TMEM107\u3092\u542b\u3080\u7e4a\u6bdb\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u540c\u3058\u5bb6\u65cf\u5185\u3067\u3001\u3042\u308b\u500b\u4f53\u3067\u306f\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001\u5225\u306e\u500b\u4f53\u3067\u306fJS\u304c\u767a\u75c7\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u304c\u91cd\u75c7\u5ea6\u306e\u7570\u306a\u308b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e00\u90e8\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u308f\u305b\u308b\u5909\u7570\u306f\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u6bd4\u8f03\u7684\u8efd\u5fae\u306a\u5909\u7570\u306fJS\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>JS\u306f\u3001\u8133\u753b\u50cf\u3067\u898b\u3089\u308c\u308b\u300c\u30e2\u30e9\u30fc\u30c8\u30a5\u30fc\u30b9\u30b5\u30a4\u30f3\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u529b\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u4e73\u5150\u671f\u306e\u547c\u5438\u7570\u5e38\u306a\u3069\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u3068\u3057\u3066\u3001\u8996\u899a\u969c\u5bb3\u3001\u8a00\u8a9e\u306e\u9045\u308c\u3001\u77e5\u80fd\u306e\u5e45\u5e83\u3044\u5909\u5316\uff08\u6b63\u5e38\u304b\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u307e\u3067\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001TMEM107\u306b\u95a2\u9023\u3057\u305fJS\u306e\u4e00\u7a2e\u3067\u3042\u308b\u300c\u53e3\u8154\u9854\u9762\u6307\u75c7\u5019\u7fa4\uff08JS-OFD\uff09\u300d\u3067\u306f\u3001\u820c\u306e\u816b\u760d\u3001\u53e3\u84cb\u88c2\u3001\u53e3\u8154\u30d2\u30c0\u306a\u3069\u306e\u9854\u9762\u3084\u53e3\u8154\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3068\u306e\u5883\u754c\u3092\u3055\u3089\u306b\u66d6\u6627\u306b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/29479454_s.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u670d\" class=\"wp-image-90507\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u306f\u3001\u305d\u306e\u91cd\u7be4\u6027\u3068\u9ad8\u3044\u81f4\u6b7b\u7387\u306e\u305f\u3081\u3001\u4e3b\u306b\u5bfe\u75c7\u7642\u6cd5\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u307e\u3059\u3002\u30ea\u30b9\u30af\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u5bb6\u65cf\u3067\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u306e\u305f\u3081\u306b\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306e\u5b9f\u65bd\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u3082\u306e\u306e\u3001\u95a2\u9023\u3059\u308b\u7e4a\u6bdb\u75c5\uff08\u4f8b\uff1aJS\uff09\u306e\u7279\u5b9a\u306e\u5408\u4f75\u75c7\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306e\u4ecb\u5165\u304c\u5f79\u7acb\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u547c\u5438\u306e\u7570\u5e38\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u554f\u984c\u3001\u767a\u9054\u9045\u6ede\u3078\u306e\u6cbb\u7642\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u53e3\u84cb\u88c2\u3001\u591a\u6307\u75c7\u3001\u809d\u81d3\u3084\u814e\u81d3\u306e\u7570\u5e38\u306a\u3069\u3001\u95a2\u9023\u3059\u308b\u7570\u5e38\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u304a\u3088\u3073\u533b\u7642\u7684\u4ecb\u5165\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u751f\u5b58\u8005\u306b\u304a\u3044\u3066\u306f\u3001\u795e\u7d4c\u5b66\u3001\u814e\u81d3\u5b66\u3001\u6d88\u5316\u5668\u5b66\u306a\u3069\u306e\u5206\u91ce\u306e\u5c02\u9580\u5bb6\u306b\u3088\u308b\u591a\u8077\u7a2e\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u306f\u4f9d\u7136\u3068\u3057\u3066\u53b3\u3057\u304f\u3001\u7e4a\u6bdb\u6a5f\u80fd\u969c\u5bb3\u304c\u521d\u671f\u767a\u9054\u306b\u4e0e\u3048\u308b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u306f\u3001\u7e4a\u6bdb\u304c\u4eba\u9593\u306e\u6210\u9577\u306b\u304a\u3044\u3066\u679c\u305f\u3059\u91cd\u8981\u306a\u5f79\u5272\u3068\u3001\u305d\u306e\u6a5f\u80fd\u969c\u5bb3\u304c\u3082\u305f\u3089\u3059\u91cd\u5927\u306a\u7d50\u679c\u3092\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\u3011<a href=\"https:\/\/jsrdf.org\/\">Joubert Syndrome &amp; Related Disorders Foundation<\/a><\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%92_CTC1_%E3%83%87%E3%82%A3%E3%82%B9%E3%82%B1%E3%83%A9%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9%E5%85%88%E5%A4%A9%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E7%96%BE%E6%82%A3%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\"><\/span>[\uff11\uff12_CTC1] \u30c7\u30a3\u30b9\u30b1\u30e9\u30c8\u30fc\u30b7\u30b9\u5148\u5929\u6027\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3\uff08Dyskeratosis Congenita and Related Telomere Biology Disorders\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/dafeac0f3079c9d11d84030f241015f9-1024x20.png\" alt=\"CTC1\" class=\"wp-image-90513\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>2023\u5e74\u306b\u3001CTC1\u907a\u4f1d\u5b50\u9818\u57df\u306b2\u3064\u306e\u5909\u7570\u3092\u6301\u306438\u6b73\u306e\u65e2\u5a5a\u5973\u6027\u304cCoats plus\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u306f\u8907\u96d1\u306a\u533b\u5b66\u7684\u8ab2\u984c\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3084\u30b1\u30a2\u3001\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5b50\u3069\u3082\u305f\u3061\u304c\u5e0c\u671b\u3092\u6301\u3063\u3066\u751f\u6d3b\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/932854_s.jpg\" alt=\"\u30ea\u30dc\u30f3\" class=\"wp-image-90521\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Coats plus\u75c7\u5019\u7fa4\u3001\u6b63\u5f0f\u540d\u79f0\u300c\u8133\u7db2\u819c\u5fae\u5c0f\u8840\u7ba1\u75c7\uff08\u77f3\u7070\u5316\u3068\u56a2\u80de\u3092\u4f34\u3046\uff091\u578b\uff08CRMCC1\uff09\u300d\u306f\u3001CTC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u307e\u308c\u306a\u6f5c\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u767a\u75c7\u306b\u306f\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3053\u3068\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002CTC1\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f53\u306e\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\uff09\u3092\u5b89\u5b9a\u3055\u305b\u3001DNA\u304c\u6b63\u78ba\u306b\u8907\u88fd\u3055\u308c\u308b\u3088\u3046\u52a9\u3051\u308bCST\u8907\u5408\u4f53\u3068\u3044\u3046\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u69cb\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001CTC1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u8907\u5408\u4f53\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u30c6\u30ed\u30e1\u30a2\u304c\u77ed\u7e2e\u3057\u3001\u67d3\u8272\u4f53\u304c\u58ca\u308c\u3084\u3059\u304f\u306a\u308b\u305f\u3081\u3001\u75c5\u6c17\u306e\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\u306f\u795e\u7d4c\u7cfb\u304a\u3088\u3073\u5168\u8eab\u306b\u53ca\u3073\u307e\u3059\u3002\u795e\u7d4c\u7cfb\u3067\u306f\u3001\u8133\u5185\u306e\u77f3\u7070\u5316\u3001\u767d\u8cea\u306e\u640d\u50b7\u3001\u8133\u56a2\u80de\u306e\u5f62\u6210\u304c\u7279\u5fb4\u7684\u3067\u3001\u3053\u308c\u306b\u3088\u308a\u75d9\u6027\u3001\u904b\u52d5\u5931\u8abf\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u3051\u3044\u308c\u3093\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u767a\u751f\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u773c\u75be\u60a3\u3068\u3057\u3066\u7db2\u819c\u8840\u7ba1\u304c\u62e1\u5f35\u3057\u6ef2\u51fa\u7269\u304c\u305f\u307e\u308b\u300cCoats\u75c5\u300d\u306e\u72b6\u614b\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u8eab\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u9aa8\u7c97\u9b06\u75c7\u306b\u3088\u308b\u9aa8\u306e\u3082\u308d\u3055\u3001\u6d88\u5316\u7ba1\u3084\u809d\u81d3\u306e\u8840\u7ba1\u7570\u5e38\u306b\u3088\u308b\u6d88\u5316\u7ba1\u51fa\u8840\u3084\u9580\u8108\u5727\u4ea2\u9032\u75c7\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u9aea\u3084\u76ae\u819a\u3001\u722a\u306b\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3084\u3001\u8ca7\u8840\u3084\u8840\u5c0f\u677f\u6e1b\u5c11\u3082\u89b3\u5bdf\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u300c\u7570\u5e38\u89d2\u5316\u75c7\u300d\u306a\u3069\u4ed6\u306e\u30c6\u30ed\u30e1\u30a2\u95a2\u9023\u75be\u60a3\u3068\u4f3c\u305f\u7279\u5fb4\u3092\u6301\u3064\u305f\u3081\u3001\u9aa8\u9ac4\u6a5f\u80fd\u4f4e\u4e0b\u3001\u304c\u3093\u3001\u80ba\u3084\u809d\u81d3\u306e\u75be\u60a3\u3068\u3044\u3063\u305f\u5408\u4f75\u75c7\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u305f\u3081\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001Labrune\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u306b\u306f\u3001\u5168\u8eab\u75c7\u72b6\u306e\u6709\u7121\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"276\" height=\"234\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q2NKJ3-F1.png\" alt=\"CST complex subunit CTC1\" class=\"wp-image-90524\" style=\"width:572px;height:auto\"\/><\/figure><\/div>\n\n\n<p>CTC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u95a2\u3059\u308b\u7814\u7a76\u3067\u306f\u3001\u7570\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u751f\u6210\u304cCST\u8907\u5408\u4f53\u306e\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u30c6\u30ed\u30e1\u30a2\u77ed\u7e2e\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u9032\u884c\u3055\u305b\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u75be\u60a3\u306e\u9032\u884c\u3084\u75c7\u72b6\u306e\u60aa\u5316\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u3068\u3081\u308b\u3068\u3001Coats plus\u75c7\u5019\u7fa4\u306f\u3001\u773c\u75be\u60a3\u3001\u8133\u306e\u77f3\u7070\u5316\u3084\u640d\u50b7\u3001\u9aa8\u306e\u3082\u308d\u3055\u3001\u6d88\u5316\u7ba1\u306e\u554f\u984c\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u3092\u542b\u3080\u8907\u96d1\u306a\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u80cc\u666f\u306b\u306f\u3001CTC1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30c6\u30ed\u30e1\u30a2\u4fdd\u8b77\u6a5f\u80fd\u306e\u969c\u5bb3\u304c\u3042\u308a\u3001CST\u8907\u5408\u4f53\u306e\u91cd\u8981\u6027\u304c\u5f37\u8abf\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\u3011<a href=\"https:\/\/alextlc.org\/condition\/coats-plus-syndrome\/\">Alex, The Leukodystrophy Charity (Alex TLC)<\/a><\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%93_RANGRF%E3%80%80%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Brugada_Syndrome%EF%BC%89\"><\/span>[\uff11\uff13_RANGRF]\u3000\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Brugada Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/38da34a7d23061e137525aa41a7d9916-1024x20.png\" alt=\"RANGRF\u3000\" class=\"wp-image-90530\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u3001\u5fc3\u81d3\u306e\u96fb\u6c17\u7684\u6d3b\u52d5\u306b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u751f\u547d\u3092\u8105\u304b\u3059\u4e0d\u6574\u8108\u3084\u7a81\u7136\u306e\u5fc3\u505c\u6b62\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u4e3b\u306bSCN5A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u5fc3\u81d3\u306e\u96fb\u6c17\u7684\u30ea\u30ba\u30e0\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u3067\u3042\u308bNav1.5\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001RANGRF\u907a\u4f1d\u5b50\u3082\u3053\u306e\u904e\u7a0b\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001MOG1\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306eMOG1\u306f\u3001Nav1.5\u304c\u5fc3\u81d3\u7d30\u80de\u306e\u819c\u306b\u6b63\u3057\u304f\u914d\u7f6e\u3055\u308c\u3001\u9069\u5207\u306b\u6a5f\u80fd\u3059\u308b\u306e\u3092\u52a9\u3051\u308b\u88dc\u52a9\u56e0\u5b50\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001RANGRF\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001Nav1.5\u306e\u819c\u3078\u306e\u914d\u7f6e\u304c\u59a8\u3052\u3089\u308c\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u5fc3\u81d3\u306e\u30ea\u30ba\u30e0\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u7a81\u7136\u6b7b\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"289\" height=\"225\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-Q9HD47-F1.png\" alt=\"Ran guanine nucleotide release factor\" class=\"wp-image-90534\" style=\"width:689px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u901a\u5e38\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u4e73\u5150\u671f\u304b\u3089\u9ad8\u9f62\u671f\u307e\u3067\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7a81\u7136\u6b7b\u306e\u5e73\u5747\u5e74\u9f62\u306f\u7d0440\u6b73\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\u306b\u306f\u3001\u5fc3\u96fb\u56f3\uff08ECG\uff09\u306b\u304a\u3051\u308b\u7279\u5b9a\u306eST\u30bb\u30b0\u30e1\u30f3\u30c8\u7570\u5e38\uff08\u7279\u306bV1\u301cV3\u8a98\u5c0e\uff09\u3084\u5fc3\u5ba4\u6027\u4e0d\u6574\u8108\u306e\u30ea\u30b9\u30af\u5897\u52a0\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u3068\u3057\u3066\u3001\u5931\u795e\u3001\u4e73\u5150\u7a81\u7136\u6b7b\u75c7\u5019\u7fa4\uff08SIDS\uff09\u3001\u304a\u3088\u3073\u4e3b\u306b\u6771\u5357\u30a2\u30b8\u30a2\u3067\u898b\u3089\u308c\u308b\u7a81\u7136\u306e\u4e88\u671f\u305b\u306c\u591c\u9593\u6b7b\u75c7\u5019\u7fa4\uff08SUNDS\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7537\u6027\u306b\u304a\u3044\u3066\u5973\u6027\u306e\u7d048\u500d\u306e\u983b\u5ea6\u3067\u767a\u75c7\u3057\u3001\u5c0f\u5150\u3067\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u5fc3\u96fb\u56f3\u6240\u898b\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u81ea\u7136\u767a\u751f\u7684\u306b\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u7279\u5b9a\u306e\u85ac\u5264\u3092\u7528\u3044\u305f\u8a98\u767a\u8a66\u9a13\u3067\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u81e8\u5e8a\u6b74\u3084\u5bb6\u65cf\u6b74\u3092\u8003\u616e\u3057\u305f\u4e0a\u3067\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308aSCN5A\u307e\u305f\u306f\u95a2\u9023\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u304c\u691c\u51fa\u3055\u308c\u308c\u3070\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6cbb\u7642\u306f\u3001\u7a81\u7136\u6b7b\u3092\u9632\u3050\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u5931\u795e\u3084\u5fc3\u505c\u6b62\u306e\u65e2\u5f80\u304c\u3042\u308b\u60a3\u8005\u306b\u306f\u3001\u690d\u8fbc\u307f\u578b\u9664\u7d30\u52d5\u5668\uff08ICD\uff09\u304c\u6700\u3082\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9ad8\u30ea\u30b9\u30af\u60a3\u8005\u306b\u306f\u3001\u88dc\u52a9\u7642\u6cd5\u3068\u3057\u3066\u30ad\u30cb\u30b8\u30f3\u304c\u4f7f\u7528\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u4e0d\u6574\u8108\u3084ICD\u30b7\u30e7\u30c3\u30af\u306e\u767a\u751f\u3092\u6291\u3048\u308b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u53f3\u5fc3\u5ba4\u6d41\u51fa\u8def\u306e\u5fc3\u5916\u819c\u30a2\u30d6\u30ec\u30fc\u30b7\u30e7\u30f3\u304c\u6709\u671b\u306a\u6cbb\u7642\u9078\u629e\u80a2\u3068\u3057\u3066\u6d6e\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7279\u306b\u5bb6\u65cf\u6b74\u3084\u65e2\u77e5\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u30ea\u30b9\u30af\u306e\u3042\u308b\u4eba\u3005\u306b\u5bfe\u3057\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u96fb\u56f3\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4e88\u9632\u7b56\u3068\u3057\u3066\u3001\u9ad8\u71b1\u3084\u7279\u5b9a\u306e\u85ac\u5264\u3001\u4e0d\u6574\u8108\u3092\u8a98\u767a\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u7269\u8cea\u306e\u56de\u907f\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u89aa\u306e\u5b50\u4f9b\u304c50%\u306e\u78ba\u7387\u3067\u3053\u306e\u75be\u60a3\u3092\u5f15\u304d\u7d99\u3050\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u767a\u73fe\u7387\u306e\u4f4e\u4e0b\u3084\u75c7\u72b6\u306e\u3070\u3089\u3064\u304d\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u5909\u7570\u3092\u6301\u3064\u3059\u3079\u3066\u306e\u4eba\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u7a00\u306b\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u65b0\u898f\uff08de novo\uff09\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u3066\u304a\u308a\u3001\u75c5\u7684\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u308c\u3070\u3001\u51fa\u751f\u524d\u307e\u305f\u306f\u7740\u5e8a\u524d\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306e\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f\u7d042,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5730\u57df\u3084\u6c11\u65cf\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u30a2\u30b8\u30a2\u3084\u4e2d\u6771\u5730\u57df\u3067\u306e\u767a\u75c7\u7387\u304c\u9ad8\u304f\u3001\u30d2\u30b9\u30d1\u30cb\u30c3\u30af\u7cfb\u3084\u767d\u4eba\u3067\u306f\u7a00\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u306f\u7121\u75c7\u72b6\u3067\u3059\u304c\u3001\u7d0430%\u304c\u5931\u795e\u3092\u7d4c\u9a13\u3057\u30018\u301c12%\u304c\u5fc3\u505c\u6b62\u306b\u81f3\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u30ea\u30b9\u30af\u3092\u8003\u616e\u3059\u308b\u3068\u3001\u65e9\u671f\u306e\u767a\u898b\u3068\u4ecb\u5165\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%94_RPL26%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\"><\/span>[\uff11\uff14_RPL26]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08Diamond-Blackfan Anemia\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2a04b9ad1f9cfddd364574e9ef7c19cc-1024x20.png\" alt=\"RPL26\u3000\" class=\"wp-image-90540\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u884011\uff08DBA11\uff09\u306f\u3001RPL26\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5408\u6210\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u4e00\u90e8\u3092\u4f5c\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002RPL26\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u50cd\u304d\u304c\u969c\u5bb3\u3055\u308c\u3001\u7d50\u679c\u3068\u3057\u3066DBA11\u304c\u767a\u75c7\u3057\u307e\u3059\u3002DBA11\u306f\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08DBA\uff09\u306e\u4e00\u3064\u306e\u30bf\u30a4\u30d7\u3067\u3001\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u73fe\u308c\u308b\u518d\u751f\u4e0d\u826f\u6027\u306e\u8ca7\u8840\u3092\u7279\u5fb4\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"222\" height=\"166\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-P61254-F1.png\" alt=\"60S ribosomal protein L26\" class=\"wp-image-90544\" style=\"width:608px;height:auto\"\/><\/figure><\/div>\n\n\n<p>DBA\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u8ca7\u8840\u3067\u3001\u3057\u3070\u3057\u3070\u8d64\u8840\u7403\u304c\u901a\u5e38\u3088\u308a\u5927\u304d\u304f\u306a\u308b\uff08\u5927\u7403\u6027\uff09\u72b6\u614b\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u9aa8\u9ac4\u5185\u3067\u8d64\u8840\u7403\u3092\u4f5c\u308a\u51fa\u3059\u7d30\u80de\uff08\u8d64\u8840\u7403\u524d\u99c6\u7d30\u80de\uff09\u304c\u5927\u5e45\u306b\u6e1b\u5c11\u3059\u308b\u4e00\u65b9\u3001\u767d\u8840\u7403\u3084\u8840\u5c0f\u677f\u306e\u6570\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3059\u3002\u60a3\u8005\u306e30\u301c40\uff05\u304c\u6210\u9577\u969c\u5bb3\u3084\u5148\u5929\u6027\u7570\u5e38\u3092\u4f34\u3044\u3001\u9854\u306e\u5f62\u72b6\u7570\u5e38\uff08\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u75c7\u5019\u7fa4\u3084\u53e3\u84cb\u88c2\uff09\u3001\u89aa\u6307\u306e\u7570\u5e38\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u80ce\u5150\u306e\u8ca7\u8840\u306b\u3088\u3063\u3066\u80ce\u5150\u6c34\u816b\u304c\u751f\u3058\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001DBA\u306f\u7279\u5b9a\u306e\u304c\u3093\u3001\u4f8b\u3048\u3070\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u3001\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u3001\u9aa8\u8089\u816b\u306a\u3069\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u767a\u75c7\u3059\u308b\u5927\u7403\u6027\u8ca7\u8840\u3001\u672a\u719f\u8d64\u8840\u7403\uff08\u7db2\u8d64\u8840\u7403\uff09\u306e\u6e1b\u5c11\u3001\u9aa8\u9ac4\u5185\u306e\u8d64\u8840\u7403\u524d\u99c6\u7d30\u80de\u306e\u4e0d\u8db3\u3001\u305d\u3057\u3066\u4ed6\u306e\u539f\u56e0\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u3067\u306f\u3001DBA\u306b\u95a2\u9023\u3059\u308b\u75c5\u7684\u306a\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001DBA\u306f\u89aa\u304b\u3089\u5f15\u304d\u7d99\u304c\u308c\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u4e00\u90e8\u3067\u306fGATA1\u3084TSR2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bX\u9023\u9396\u6027\u907a\u4f1d\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u8ca7\u8840\u306e\u6539\u5584\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3067\u3059\u300212\u304b\u6708\u4ee5\u4e0a\u306e\u5b50\u3069\u3082\u306b\u306f\u526f\u814e\u76ae\u8cea\u30b9\u30c6\u30ed\u30a4\u30c9\u5264\u304c\u52b9\u679c\u7684\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u9577\u671f\u4f7f\u7528\u306f\u611f\u67d3\u75c7\u3001\u6210\u9577\u6291\u5236\u3001\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\u3068\u3044\u3063\u305f\u526f\u4f5c\u7528\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30b9\u30c6\u30ed\u30a4\u30c9\u304c\u52b9\u304b\u306a\u3044\u5834\u5408\u3084\u3001\u526f\u4f5c\u7528\u304c\u5f37\u3044\u5834\u5408\u306b\u306f\u3001\u8d64\u8840\u7403\u8f38\u8840\u3084\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002HSCT\u306f\u3001DBA\u306b\u3088\u308b\u8ca7\u8840\u3092\u6839\u672c\u7684\u306b\u6cbb\u7642\u3059\u308b\u552f\u4e00\u306e\u65b9\u6cd5\u3067\u3059\u3002\u307e\u305f\u3001\u9aa8\u3084\u76ee\u3001\u5185\u5206\u6ccc\u306b\u95a2\u9023\u3059\u308b\u554f\u984c\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3066\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u304c\u3093\u306e\u6cbb\u7642\u3067\u306f\u3001\u8840\u6db2\u7d30\u80de\u306e\u6e1b\u5c11\u3092\u9632\u3050\u305f\u3081\u3001\u5316\u5b66\u7642\u6cd5\u306e\u4f7f\u7528\u306b\u306f\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23502599_s-1.jpg\" alt=\"\u306c\u3044\u3050\u308b\u307f\" class=\"wp-image-88641\"\/><\/figure>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8f38\u8840\u306b\u3088\u308b\u9244\u904e\u5270\u75c7\u306a\u3069\u306e\u4e8c\u6b21\u7684\u306a\u5408\u4f75\u75c7\u306b\u306f\u3001\u9244\u30ad\u30ec\u30fc\u30c8\u7642\u6cd5\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u8f38\u8840\u306b\u3088\u308b\u9244\u904e\u5270\u3084\u30b9\u30c6\u30ed\u30a4\u30c9\u306e\u526f\u4f5c\u7528\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u7d4c\u904e\u89b3\u5bdf\u3067\u306f\u3001\u8840\u6db2\u691c\u67fb\u3084\u9aa8\u9ac4\u8a55\u4fa1\u3001\u304c\u3093\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u30ea\u30b9\u30af\u306e\u3042\u308b\u5bb6\u65cf\u3092\u7279\u5b9a\u3057\u3001\u65e9\u671f\u5bfe\u5fdc\u3092\u56f3\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>DBA\u306f\u4e3b\u306b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306b\u3088\u308a\u53d7\u3051\u7d99\u304c\u308c\u3001\u60a3\u8005\u306e40\u301c45\uff05\u304c\u89aa\u304b\u3089\u75c5\u7684\u5909\u7570\u3092\u5f15\u304d\u7d99\u3044\u3067\u3044\u307e\u3059\u3002\u6b8b\u308a\u306e\u30b1\u30fc\u30b9\u306f\u65b0\u898f\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002X\u9023\u9396\u6027\u306e\u5834\u5408\u3001\u5909\u7570\u3092\u6301\u3064\u7537\u6027\u306f\u305d\u306e\u5909\u7570\u3092\u3059\u3079\u3066\u306e\u5a18\u306b\u4f1d\u3048\u307e\u3059\u304c\u3001\u606f\u5b50\u306b\u306f\u4f1d\u308f\u308a\u307e\u305b\u3093\u3002\u5973\u6027\u304c\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3001\u5b50\u3069\u3082\u306b\u5909\u7570\u304c\u4f1d\u308f\u308b\u78ba\u7387\u306f50\uff05\u3067\u3001\u606f\u5b50\u304c\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u3068\u767a\u75c7\u3057\u3001\u5a18\u306e\u5834\u5408\u306f\u901a\u5e38\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306b\u306f\u6bcd\u4f53\u306e\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u5024\u3092\u6ce8\u610f\u6df1\u304f\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f4e\u7528\u91cf\u306e\u30a2\u30b9\u30d4\u30ea\u30f3\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u5408\u4f75\u75c7\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5bb6\u65cf\u306b\u63a8\u5968\u3055\u308c\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u8a3a\u65ad\u3082\u9078\u629e\u80a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>DBA\u306f\u3001\u7d30\u80de\u306e\u30ea\u30dc\u30bd\u30fc\u30e0\u6a5f\u80fd\u3068\u5168\u8eab\u306e\u767a\u9054\u904e\u7a0b\u304c\u3044\u304b\u306b\u5bc6\u63a5\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u304b\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u3001\u8840\u6db2\u306e\u7570\u5e38\u3084\u5168\u8eab\u306e\u5148\u5929\u6027\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91%EF%BC%95_NTN1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E9%8F%A1%E5%8B%95%E4%BD%9C%EF%BC%88Congenital_Mirror_Movements%EF%BC%89\"><\/span>[\uff11\uff15_NTN1]\u3000\u5148\u5929\u6027\u93e1\u52d5\u4f5c\uff08Congenital Mirror Movements\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/17p13.1hgtIdeo_genome_1e0a65_8bed30-1024x20.png\" alt=\"17p13.1\" class=\"wp-image-90255\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/NTN1hgtIdeo_genome_22e795_a232b0-1024x20.png\" alt=\"NTN1\u3000\" class=\"wp-image-90550\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c84\uff08Mirror Movements 4, MRMV4\uff09\u306f\u3001<em>NTN1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u795e\u7d4c\u8ef8\u7d22\u306e\u8a98\u5c0e\u3068\u7d30\u80de\u306e\u751f\u5b58\u306b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30cd\u30c8\u30ea\u30f3-1\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u30cd\u30c8\u30ea\u30f3-1\u306f\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u4ea4\u9023\u8ef8\u7d22\uff08\u5de6\u53f3\u306e\u795e\u7d4c\u3092\u7d50\u3076\u8ef8\u7d22\uff09\u3084\u672b\u68a2\u904b\u52d5\u8ef8\u7d22\u306e\u6210\u9577\u3092\u5c0e\u304d\u307e\u3059\u3002\u30cd\u30c8\u30ea\u30f3-1\u306f\u3001DCC\u3084UNC5\u30d5\u30a1\u30df\u30ea\u30fc\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u53d7\u5bb9\u4f53\u3068\u7d50\u5408\u3059\u308b\u3053\u3068\u3067\u3001\u8ef8\u7d22\u306e\u300c\u5f15\u304d\u5bc4\u305b\u300d\u3084\u300c\u6392\u65a5\u300d\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001UNC5C\u3068\u3044\u3046\u53d7\u5bb9\u4f53\u306b\u7d50\u5408\u3059\u308b\u3068\u3001\u3053\u306e\u53d7\u5bb9\u4f53\u304c\u7d30\u80de\u9aa8\u683c\u306e\u69cb\u6210\u8981\u7d20\u3067\u3042\u308b\u5fae\u5c0f\u7ba1\u304b\u3089\u5206\u96e2\u3055\u308c\u3001\u5fae\u5c0f\u7ba1\u306e\u52d5\u304d\u304c\u6d3b\u767a\u5316\u3057\u3001\u8ef8\u7d22\u306e\u6392\u65a5\u304c\u4fc3\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30cd\u30c8\u30ea\u30f3-1\u306f\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u30d7\u30ed\u30b0\u30e9\u30e0\u7d30\u80de\u6b7b\uff09\u3092\u9632\u3050\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u306e\u751f\u5b58\u3092\u52a9\u3051\u308b\u5f79\u5272\u3082\u3042\u308a\u3001\u3053\u308c\u304c\u816b\u760d\u306e\u767a\u751f\u3084\u9032\u884c\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"343\" height=\"155\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/AF-O95631-F1.png\" alt=\"Netrin-1\" class=\"wp-image-90553\" style=\"width:827px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u30cd\u30c8\u30ea\u30f3-1\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001MRMV4\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u3001\u4f53\u306e\u7247\u5074\u306e\u968f\u610f\u904b\u52d5\u304c\u53cd\u5bfe\u5074\u3067\u93e1\u306e\u3088\u3046\u306b\u53cd\u5c04\u3055\u308c\u308b\u300c\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u975e\u81ea\u767a\u7684\u306a\u52d5\u304d\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u5e7c\u5150\u671f\u306b\u306f\u4e00\u6642\u7684\u306a\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u30017\u6b73\u3092\u904e\u304e\u3066\u3082\u6d88\u3048\u306a\u3044\u5834\u5408\u306f\u7570\u5e38\u3067\u3042\u308a\u3001\u75c5\u7684\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002MRMV4\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u52d5\u304d\u306f\u4e3b\u306b\u4e0a\u80a2\u306b\u73fe\u308c\u3001\u7279\u306b\u6307\u3084\u624b\u306e\u52d5\u304d\u304c\u6700\u3082\u5f37\u304f\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002\u901a\u5e38\u3001\u6b69\u884c\u306b\u306f\u652f\u969c\u304c\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8db3\u306e\u6307\u306e\u7b4b\u8089\u304c\u8efd\u5ea6\u306b\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u306f\u901a\u5e38\u3001\u5e7c\u5c11\u671f\u306b\u73fe\u308c\u3001\u6210\u4eba\u671f\u3092\u901a\u3058\u3066\u9032\u884c\u3084\u6539\u5584\u306e\u306a\u3044\u307e\u307e\u6301\u7d9a\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u52d5\u304d\u306e\u5f37\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u610f\u56f3\u7684\u306a\u52d5\u304d\u3088\u308a\u3082\u901a\u5e38\u306f\u5f31\u304f\u306a\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u4eba\u3067\u306f\u3001\u7e70\u308a\u8fd4\u3057\u306e\u624b\u4f5c\u696d\u3084\u6301\u7d9a\u7684\u306a\u52d5\u4f5c\u306b\u3088\u3063\u3066\u4e0a\u80a2\u306b\u75db\u307f\u3092\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7d30\u304b\u3044\u4f5c\u696d\u3084\u7247\u624b\u3060\u3051\u3067\u306e\u52d5\u4f5c\u3092\u5fc5\u8981\u3068\u3059\u308b\u65e5\u5e38\u751f\u6d3b\u306e\u30bf\u30b9\u30af\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u306eMRI\u691c\u67fb\u3067\u306f\u901a\u5e38\u3001\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u305b\u3093\u304c\u3001DCC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5834\u5408\u3001\u8133\u6881\u306e\u90e8\u5206\u7684\u307e\u305f\u306f\u5b8c\u5168\u306a\u6b20\u5982\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u3053\u308c\u307e\u3067\u306e\u3068\u3053\u308d<em>NTN1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30b1\u30fc\u30b9\u3067\u8133\u6881\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u305f\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/3818248_s.jpg\" alt=\"kagami\" class=\"wp-image-90556\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6cbb\u7642\u306f\u3001\u9032\u884c\u6027\u3067\u306f\u306a\u3044\u305f\u3081\u9069\u5fdc\u306b\u91cd\u70b9\u3092\u7f6e\u304d\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u5b50\u3069\u3082\u306b\u306f\u8a66\u9a13\u6642\u9593\u3092\u5ef6\u9577\u3057\u305f\u308a\u3001\u7b46\u8a18\u4f5c\u696d\u3092\u6e1b\u3089\u3057\u305f\u308a\u3068\u3044\u3063\u305f\u6559\u80b2\u9762\u3067\u306e\u914d\u616e\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u9752\u5e74\u671f\u3084\u6210\u4eba\u671f\u306b\u306f\u3001\u8907\u96d1\u306a\u4e21\u624b\u306e\u5354\u8abf\u52d5\u4f5c\u3084\u9577\u6642\u9593\u306e\u624b\u4f5c\u696d\u3092\u5fc5\u8981\u3068\u3057\u306a\u3044\u8077\u696d\u3092\u9078\u3076\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u793e\u4f1a\u7684\u306a\u504f\u898b\u3092\u9632\u304e\u3001\u672c\u4eba\u306e\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306b\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u306f\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u304c\u3001\u767a\u75c7\u306e\u78ba\u7387\uff08\u6d78\u900f\u7387\uff09\u304c\u4f4e\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u75c7\u72b6\u304c\u3042\u308b\u89aa\u304b\u3089\u907a\u4f1d\u5b50\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u3057\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u767a\u75c7\u3059\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u767a\u75c7\u3057\u3066\u3044\u306a\u3044\u89aa\u304b\u3089\u5144\u5f1f\u59c9\u59b9\u306b\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u305f\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u8a3a\u65ad\u3092\u9078\u629e\u80a2\u3068\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6709\u75c5\u7387\u306f\u975e\u5e38\u306b\u4f4e\u304f\u3001\u63a8\u5b9a1,000,000\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8efd\u75c7\u4f8b\u306e\u672a\u8a3a\u65ad\u304c\u591a\u3044\u305f\u3081\u3001\u5b9f\u969b\u306e\u6709\u75c5\u7387\u306f\u3053\u308c\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30df\u30e9\u30fc\u30e0\u30fc\u30d6\u30e1\u30f3\u30c8\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001<em>NTN1<\/em>\u3001<em>DCC<\/em>\u3001\u307e\u305f\u306f<em>RAD51<\/em>\u306e\u5909\u7570\u3067\u3059\u304c\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f<em>DCC<\/em>\u306b\u95a2\u9023\u3059\u308b\u30b1\u30fc\u30b9\u3067\u3001\u767a\u75c7\u306e\u78ba\u7387\u306f\u7d0442%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306f\u3001\u51fa\u751f\u524dFISH\uff08\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306e\u3088\u3046\u306a\u4fb5\u8972\u7684\u306a\u65b9\u6cd5\u306b\u4ee3\u308f\u308b\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u767b\u5834\u3057\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306f\u3001\u5b50\u5bae\u306b\u91dd\u3092\u523a\u3057\u3066\u7f8a\u6c34\u3084\u7d68\u6bdb\u819c\u306e\u7d30\u80de\u3092\u63a1\u53d6\u3057\u307e\u3059\u304c\u3001NIPT\u306f\u6bcd\u89aa\u306e\u8840\u6db2\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306e\u7d30\u80de\u3092\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306e\u5065\u5eb7\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u306a\u304f\u3001\u4fe1\u983c\u3067\u304d\u308b\u7d50\u679c\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001NIPT\u306f\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3092\u6c42\u3081\u308b\u598a\u5a66\u3055\u3093\u305f\u3061\u306e\u9593\u3067\u3001\u307e\u3059\u307e\u3059\u4eba\u6c17\u306e\u3042\u308b\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3068\u3048\u907a\u4f1d\u7684\u306a\u7570\u5e38\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u305d\u306e\u5b50\u3069\u3082\u304c\u6210\u9577\u3057\u3001\u5b9f\u308a\u3042\u308b\u4eba\u751f\u3092\u9001\u308b\u305f\u3081\u306e\u9053\u3084\u5e0c\u671b\u306f\u6b8b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u7814\u7a76\u304c\u9032\u5c55\u3057\u3066\u3044\u308b\u4eca\u3001\u305d\u306e\u53ef\u80fd\u6027\u306f\u307e\u3059\u307e\u3059\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002NIPT\u306b\u3088\u308b\u65e9\u671f\u767a\u898b\u304c\u3001\u4e0d\u5b89\u306e\u539f\u56e0\u3067\u306f\u306a\u304f\u3001\u5b89\u5fc3\u3092\u5f97\u308b\u624b\u6bb5\u3068\u306a\u308a\u3001\u3054\u5bb6\u65cf\u306e\u672a\u6765\u306b\u5099\u3048\u308b\u305f\u3081\u306e\u4e00\u52a9\u3068\u306a\u308b\u3053\u3068\u3092\u9858\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK279760\/\">M\u00e9neret A, Trouillard O, Dunoyer M, et al. Congenital Mirror Movements. 2015 Mar 12 [Updated 2020 Sep 24]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK279760\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/00005792-199603000-00004\">Janov, A. J., Leong, T., Nathan, D. G., &amp; Guinan, E. C. (1996). Diamond-Blackfan anemia. Natural history and sequelae of treatment. <em>Medicine<\/em>, <em>75<\/em>(2), 77\u201378. https:\/\/doi.org\/10.1097\/00005792-199603000-00004<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1203\/00006450-199911000-00011\">Willig, T.-N., Niemeyer, C. M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J.-L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S., Guillard, J. M., &amp; Mohandas, N. (1999). Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 diamond-blackfan anemia patients. <em>Pediatric Research<\/em>, <em>46<\/em>(5), 553\u2013553. https:\/\/doi.org\/10.1203\/00006450-199911000-00011<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/\">Sieff C. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/s0378-1119(01)00364-x\">Marfatia, K. A., Harreman, M. T., Fanara, P., Vertino, P. M., &amp; Corbett, A. H. (2001). Identification and characterization of the human MOG1 gene. <em>Gene<\/em>, <em>266<\/em>(1-2), 45\u201356. https:\/\/doi.org\/10.1016\/s0378-1119(01)00364-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1517\/\">Brugada R, Campuzano O, Sarquella-Brugada G, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2022 Aug 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1517\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.5603\/CJ.a2013.0125\">Campuzano, O., Berne, P., Selga, E., Allegue, C., Iglesias, A., Brugada, J., &amp; Brugada, R. (2014). Brugada syndrome and p.E61X_RANGRF. <em>Cardiology journal<\/em>, <em>21<\/em>(2), 121\u2013127. https:\/\/doi.org\/10.5603\/CJ.a2013.0125<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/24741264231171465\">Kayarian, F. B., Cohen, S. M., Cohen, M. L., &amp; Sammartino, D. E. (2023). Coats plus syndrome presenting in an adult. <em>Journal of VitreoRetinal Diseases<\/em>, <em>7<\/em>(6), 562\u2013564. https:\/\/doi.org\/10.1177\/24741264231171465<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ng.1084\">Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O&#8217;Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M., Babul-Hirji, R., Baxter, P., Berger, A., Bonaf\u00e9, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D., \u2026 Crow, Y. J. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. <em>Nature genetics<\/em>, <em>44<\/em>(3), 338\u2013342. https:\/\/doi.org\/10.1038\/ng.1084<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.002\">Polvi, A., Linnankivi, T., Kivel\u00e4, T., Herva, R., Keating, J. P., M\u00e4kitie, O., Pareyson, D., Vainionp\u00e4\u00e4, L., Lahtinen, J., Hovatta, I., Pihko, H., &amp; Lehesjoki, A. E. (2012). Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. <em>American journal of human genetics<\/em>, <em>90<\/em>(3), 540\u2013549. https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/0022034517732538\">Cela, P., Hampl, M., Shylo, N. A., Christopher, K. J., Kavkova, M., Landova, M., Zikmund, T., Weatherbee, S. D., Kaiser, J., &amp; Buchtova, M. (2018). Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development. <em>Journal of dental research<\/em>, <em>97<\/em>(1), 108\u2013117. https:\/\/doi.org\/10.1177\/0022034517732538<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ncb3273\">Lambacher, N. J., Bruel, A. L., van Dam, T. J., Szyma\u0144ska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., Doummar, D., Rivi\u00e8re, J. B., Faivre, L., Atti\u00e9-Bitach, T., Saunier, S., Curd, A., Peckham, M., Giles, R. H., \u2026 Blacque, O. E. (2016). TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert&nbsp;syndrome. <em>Nature cell biology<\/em>, <em>18<\/em>(1), 122\u2013131. https:\/\/doi.org\/10.1038\/ncb3273<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1325\/\">Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [Updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1325\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK8828\/\">Turnpenny PD, Sloman M, Dunwoodie S. Spondylocostal Dysostosis, Autosomal Recessive. 2009 Aug 25 [Updated 2023 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK8828\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1359\/\">Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. 2006 Feb 1 [Updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1359\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/ddg.13340\">Oji, V., Preil, M. L., Kleinow, B., Wehr, G., Fischer, J., Hennies, H. C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva-Po\u00f3r, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-Ortiz, A. M., Zaraeva, I., Diem, A., Giehl, K., F\u00f6lster-Holst, R., Kiekbusch, K., \u2026 Traupe, H. (2017). S1 guidelines for the diagnosis and treatment of ichthyoses &#8211; update.&nbsp;<em>Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG<\/em>,&nbsp;<em>15<\/em>(10), 1053\u20131065. https:\/\/doi.org\/10.1111\/ddg.13340<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.alit.2017.10.002\">Egawa, G., &amp; Kabashima, K. (2018). Barrier dysfunction in the skin allergy. <em>Allergology International<\/em>, <em>67<\/em>(1), 3\u201311. https:\/\/doi.org\/10.1016\/j.alit.2017.10.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1420\/\">Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [Updated 2023 Apr 20]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1420\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/S0140-6736(24)01447-8\">Yang, P., Pardon, L. P., Ho, A. C., Lauer, A. K., Yoon, D., Boye, S. E., Boye, S. L., Roman, A. J., Wu, V., Garafalo, A. V., Sumaroka, A., Swider, M., Viarbitskaya, I., Aleman, T. S., Pennesi, M. E., Kay, C. N., Fujita, K. P., &amp; Cideciyan, A. V. (2024). Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: A phase 1\/2, multicentre, open-label, unilateral dose escalation study. <em>The Lancet<\/em>, <em>404<\/em>(10456), 962\u2013970. https:\/\/doi.org\/10.1016\/S0140-6736(24)01447-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-319-95046-4_26\">Tsang, S. H., &amp; Sharma, T. (2018). Leber congenital amaurosis. In S. H. Tsang &amp; T. Sharma (Eds.), <em>Atlas of Inherited Retinal Diseases<\/em> (Vol. 1085, pp. 131\u2013137). Springer International Publishing. https:\/\/doi.org\/10.1007\/978-3-319-95046-4_26<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK531510\/\">Kumaran N, Pennesi ME, Yang P, et al. Leber Congenital Amaurosis&nbsp;\/ Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK531510\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes14061300\">Lin, M.-H., Chou, P.-C., Lee, I.-C., Yang, S.-F., Yu, H.-S., &amp; Yu, S. (2023). Inherited reticulate pigmentary disorders. <em>Genes<\/em>, <em>14<\/em>(6), 1300. https:\/\/doi.org\/10.3390\/genes14061300<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK22301\/\">Savage SA, Niewisch MR. Dyskeratosis Congenita and Related Telomere Biology Disorders. 2009 Nov 12 [Updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK22301\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1294\/\">Turner JT, Brzezinski J, Dome JS. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1294\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1311\/\">Schneider K, Zelley K, Nichols KE, et al. Li-Fraumeni Syndrome. 1999 Jan 19 [Updated 2024 Sep 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1311\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jmd2.12060\">Van Tol, W., Ashikov, A., Korsch, E., Abu Bakar, N., Willemsen, M. A., Thiel, C., &amp; Lefeber, D. J. (2019). A mutation in mannose\u2010phosphate\u2010dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. <em>JIMD Reports<\/em>, <em>50<\/em>(1), 31\u201339. https:\/\/doi.org\/10.1002\/jmd2.12060<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1332\/\">Sparks SE, Krasnewich DM. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview. 2005 Aug 15 [Updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1332\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1042\/ETLS20180100\">Thompson, R., Bonne, G., Missier, P., &amp; Lochm\u00fcller, H. (2019). Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. <em>Emerging topics in life sciences<\/em>, <em>3<\/em>(1), 19\u201337. https:\/\/doi.org\/10.1042\/ETLS20180100<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1168\/\">Abicht A, M\u00fcller JS, Lochm\u00fcller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [Updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1168\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ped-perinatology.ru\/jour\/article\/view\/57\/0?locale=en_US\">Degtyareva, A. V., Nikitina, I. V., Orlovskaya, I. V., Zakharova, E. Y., Baidakova, G. V., Ionov, O. V., &#8230; &amp; Levadnaya, A. V. (2016). Very long-chain acyl-coenzyme A dehydrogenase deficiency. <em>Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)<\/em>, <em>59<\/em>(4), 41-47.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/jp.2009.198\">Mendez-Figueroa, H., Shchelochkov, O. A., Shaibani, A., Aagaard-Tillery, K., &amp; Shinawi, M. S. (2010). Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. <em>Journal of perinatology : official journal of the California Perinatal Association<\/em>, <em>30<\/em>(8), 558\u2013562. https:\/\/doi.org\/10.1038\/jp.2009.198<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK6816\/\">Leslie ND, Saenz-Ayala S. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. 2009 May 28 [Updated 2023 Jul 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK6816\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41436-020-01075-9\">Rodr\u00edguez-Palmero, A., Boerrigter, M. M., G\u00f3mez-Andr\u00e9s, D., Aldinger, K. A., Marcos-Alcalde, \u00cd., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. M., Bjerregaard, V. A., Bruel, A. L., Challman, T. D., Cogn\u00e9, B., Coubes, C., de Man, S. A., Denomm\u00e9-Pichon, A. S., Dye, T. J., \u2026 T\u00fcmer, Z. (2021). DLG4-related synaptopathy: a new rare brain disorder. <em>Genetics in medicine : official journal of the American College of Medical Genetics<\/em>, <em>23<\/em>(5), 888\u2013899. https:\/\/doi.org\/10.1038\/s41436-020-01075-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK592682\/\">T\u00fcmer Z, Dye TJ, Prada C, et al. DLG4-Related Synaptopathy. 2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK592682\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/s41586-021-03819-2\" target=\"_blank\" rel=\"noreferrer noopener\">Jumper, J <em>et al<\/em>. Highly accurate protein structure prediction with AlphaFold. <em>Nature<\/em> (2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkab1061\/6430488\" target=\"_blank\" rel=\"noreferrer noopener\">Varadi, M <em>et al<\/em>. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. <em>Nucleic Acids Research <\/em>(2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adg7492\" target=\"_blank\" rel=\"noreferrer noopener\">Cheng, J et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science (2023).<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u8a18\u4e8b\u6982\u8981 \u732b\u9cf4\u75c7\u5019\u7fa4\u306f\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[394],"tags":[],"class_list":["post-90242","post","type-post","status-publish","format-standard","hentry","category-uncategorized-2"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90242","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=90242"}],"version-history":[{"count":70,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90242\/revisions"}],"predecessor-version":[{"id":125360,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90242\/revisions\/125360"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=90242"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=90242"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=90242"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}