{"id":83647,"date":"2024-11-15T17:19:12","date_gmt":"2024-11-15T08:19:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83647"},"modified":"2026-03-04T12:57:49","modified_gmt":"2026-03-04T03:57:49","slug":"xp11-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/","title":{"rendered":"Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\uff08NDP\u3001KDM6A\u3001RP2\u306a\u3069\uff09\u3084\u75be\u60a3\uff08\u30ce\u30ea\u30fc\u75c5\u3001\u6b4c\u821e\u4f0e\u75c7\u5019\u7fa42\u578b\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b\u306a\u3069\uff09\u3001\u305d\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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 class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/#%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\" >\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<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/#%EF%BC%91_NDP%E3%80%80%E3%83%8E%E3%83%AA%E3%83%BC%E7%97%85%EF%BC%88Norrie_disease%EF%BC%89\" >[\uff11_NDP]\u3000\u30ce\u30ea\u30fc\u75c5\uff08Norrie disease\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/#%EF%BC%92_KDM6A%E3%80%80%E6%AD%8C%E8%88%9E%E4%BC%8E%E7%97%87%E5%80%99%E7%BE%A42%EF%BC%88Kabuki_syndrome_2_KABUK2%EF%BC%89\" >[\uff12_KDM6A]\u3000\u6b4c\u821e\u4f0e\u75c7\u5019\u7fa42\uff08Kabuki syndrome 2 (KABUK2)\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\/xp11-3-deletion-syndrome\/#%EF%BC%93_RP2%E3%80%80%E7%B6%B2%E8%86%9C%E8%89%B2%E7%B4%A0%E5%A4%89%E6%80%A7%E7%97%872%E5%9E%8B%EF%BC%88Retinitis_pigmentosa_2_RP2%EF%BC%89\" >[\uff13_RP2]\u3000\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b\uff08Retinitis pigmentosa 2 (RP2)\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\/xp11-3-deletion-syndrome\/#%EF%BC%94_NDUFB11%E3%80%80%E5%A4%9A%E7%99%BA%E6%80%A7%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E7%B7%9A%E7%8A%B6%E7%9A%AE%E8%86%9A%E6%AC%A0%E6%90%8D_3%EF%BC%88Linear_skin_defects_with_multiple_congenital_anomalies_3_LSDMCA3%EF%BC%89\" >[\uff14_NDUFB11]\u3000\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u7dda\u72b6\u76ae\u819a\u6b20\u640d 3\uff08Linear skin defects with multiple congenital anomalies 3 (LSDMCA3)\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\/xp11-3-deletion-syndrome\/#%EF%BC%95_UBA1%E3%80%80%E8%84%8A%E9%AB%84%E6%80%A7%E7%AD%8B%E8%90%8E%E7%B8%AE%E7%97%87X%E9%80%A3%E9%8E%962%EF%BC%88Spinal_muscular_atrophy_X-linked_2_SMAX2%EF%BC%89\" >[\uff15_UBA1]\u3000\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7X\u9023\u93962\uff08Spinal muscular atrophy X-linked 2 (SMAX2)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\">NDP<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ce\u30ea\u30fc\u75c5<\/td><td class=\"has-text-align-center\" data-align=\"center\">Norrie disease<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">KDM6A<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6b4c\u821e\u4f0e\u75c7\u5019\u7fa42<\/td><td class=\"has-text-align-center\" data-align=\"center\">Kabuki syndrome 2 (KABUK2)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">RP2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Retinitis pigmentosa 2 (RP2)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">NDUFB11<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u7dda\u72b6\u76ae\u819a\u6b20\u640d 3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Linear skin defects with multiple congenital anomalies 3 (LSDMCA3)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">UBA1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7X\u9023\u93962<\/td><td class=\"has-text-align-center\" data-align=\"center\">Spinal muscular atrophy X-linked 2 (SMAX2)<\/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=\"925\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromox-MeGbDOXAeKbUEBBTJUAAASHX.png\" alt=\"chromoX\" class=\"wp-image-90588\"\/><\/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_NDP%E3%80%80%E3%83%8E%E3%83%AA%E3%83%BC%E7%97%85%EF%BC%88Norrie_disease%EF%BC%89\"><\/span>[\uff11_NDP]\u3000\u30ce\u30ea\u30fc\u75c5\uff08Norrie disease\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\/2024\/11\/e577c9317e1f1a87cd193cc0e1804c5b-1024x20.png\" alt=\"NDP\" class=\"wp-image-91109\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ce\u30ea\u30fc\u75c5\uff08Norrie\u75c5\u3001ND\uff09\u306f\u3001X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u306b\u3088\u308b\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u751f\u5f8c\u9593\u3082\u306a\u304f\u8996\u899a\u969c\u5bb3\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u3001\u7db2\u819c\u306e\u767a\u9054\u306b\u6df1\u523b\u306a\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7db2\u819c\u306f\u3001\u5149\u3084\u8272\u3092\u611f\u3058\u308b\u305f\u3081\u306e\u611f\u899a\u7d30\u80de\u304c\u96c6\u307e\u308b\u76ee\u306e\u91cd\u8981\u306a\u90e8\u5206\u3067\u3059\u304c\u3001\u30ce\u30ea\u30fc\u75c5\u306e\u60a3\u8005\u3067\u306f\u3001\u672a\u719f\u306a\u7db2\u819c\u7d30\u80de\u304c\u773c\u7403\u5f8c\u90e8\u306b\u84c4\u7a4d\u3057\u3001\u8996\u899a\u6a5f\u80fd\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u72b6\u614b\u306f\u300c\u767d\u77b3\u75c7\uff08leukocoria\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u77b3\u5b54\u304c\u5149\u3092\u53cd\u5c04\u3057\u3066\u767d\u304f\u898b\u3048\u308b\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u75c5\u72b6\u306e\u9032\u884c\u306b\u3088\u308a\u3001\u8679\u5f69\uff08\u76ee\u306e\u8272\u3092\u69cb\u6210\u3059\u308b\u90e8\u5206\uff09\u3084\u773c\u7403\u5168\u4f53\u304c\u9000\u7e2e\u3059\u308b\u3053\u3068\u3084\u3001\u767d\u5185\u969c\uff08\u30ec\u30f3\u30ba\u306e\u6fc1\u308a\uff09\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ce\u30ea\u30fc\u75c5\u306e\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3059\u308bNDP\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30ce\u30ea\u30f3\uff08Norrin\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3059\u308b\u6307\u4ee4\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u30ce\u30ea\u30f3\u306f\u3001\u7d30\u80de\u306e\u767a\u9054\u3084\u7d44\u7e54\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u300cWnt\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u300d\u3092\u6d3b\u6027\u5316\u3059\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u7d4c\u8def\u306f\u7279\u306b\u7db2\u819c\u306b\u304a\u3051\u308b\u8840\u7ba1\u5f62\u6210\u3084\u611f\u899a\u7d30\u80de\u306e\u7279\u5316\u3001\u5185\u8033\u306e\u767a\u9054\u3001\u3055\u3089\u306b\u306f\u4f53\u5185\u306e\u4ed6\u306e\u7d44\u7e54\u306e\u5f62\u6210\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001NDP\u907a\u4f1d\u5b50\u304c\u5909\u7570\u3059\u308b\u3068\u3001\u30ce\u30ea\u30f3\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u3001\u7db2\u819c\u3084\u5185\u8033\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u304c\u6b63\u5e38\u306b\u9032\u307e\u305a\u3001\u30ce\u30ea\u30fc\u75c5\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/11q13-2-q13-4-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">11q13.2-q13.4\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">11q13.2-q13.4\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u7269\u8cea\u306e\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u306e\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3059\u3002\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf...<\/div>\n      <\/div>\n    <\/a>\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\/30296468_s.jpg\" alt=\"\u307f\u307f\u3092\u3055\u308f\u308b\" class=\"wp-image-90897\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u7537\u6027\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7537\u6027\u304cX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001NDP\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u3001\u305d\u306e\u5f71\u97ff\u304c\u76f4\u63a5\u73fe\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u4e00\u65b9\u306e\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u304c\u88dc\u52a9\u7684\u306b\u6a5f\u80fd\u3057\u3001\u75c7\u72b6\u304c\u73fe\u308c\u306b\u304f\u3044\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u7a00\u306b\u5973\u6027\u3067\u3082\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306f\u300cX\u67d3\u8272\u4f53\u4e0d\u6d3b\u6027\u5316\u300d\u3068\u547c\u3070\u308c\u308b\u73fe\u8c61\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u304c\u5341\u5206\u306b\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ce\u30ea\u30fc\u75c5\u306e\u4e3b\u306a\u75c7\u72b6\u306b\u306f\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u306e\u75c7\u72b6<\/strong>: \u7db2\u819c\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u7db2\u819c\u5265\u96e2\u3001\u767d\u5185\u969c\u3001\u8679\u5f69\u306e\u840e\u7e2e\u3001\u773c\u5727\u306e\u4e0a\u6607\uff08\u7dd1\u5185\u969c\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3067\u306f\u751f\u5f8c\u6570\u30ab\u6708\u4ee5\u5185\u306b\u8996\u899a\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a\u969c\u5bb3<\/strong>: \u7d0430\uff05\u306e\u60a3\u8005\u304c10\u4ee3\u5f8c\u534a\u304b\u308920\u4ee3\u306b\u304b\u3051\u3066\u611f\u97f3\u6027\u96e3\u8074\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u8074\u899a\u306e\u4f4e\u4e0b\u306f\u9032\u884c\u6027\u3067\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\u3068\u7cbe\u795e\u7684\u554f\u984c<\/strong>: \u7d0430\uff5e50\uff05\u306e\u60a3\u8005\u304c\u904b\u52d5\u30b9\u30ad\u30eb\uff08\u4f8b: \u5ea7\u308b\u3001\u6b69\u304f\uff09\u306e\u767a\u9054\u9045\u6ede\u3092\u7d4c\u9a13\u3057\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u7cbe\u795e\u969c\u5bb3\uff08\u6642\u306b\u7cbe\u795e\u75c5\u7684\u7279\u5fb4\u3092\u4f34\u3046\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong>: \u6210\u9577\u969c\u5bb3\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08\u4f8b: \u4e0b\u80a2\u9759\u8108\u7624\u3084\u6027\u6a5f\u80fd\u969c\u5bb3\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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\/2024\/11\/31127225_s.jpg\" alt=\"\u5bdd\u3066\u3044\u308b\u5b50\u4f9b\" class=\"wp-image-88779\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ce\u30ea\u30fc\u75c5\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4e21\u65b9\u3092\u7528\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u7279\u306b\u7537\u6027\u60a3\u8005\u3067\u306f\u3001NDP\u907a\u4f1d\u5b50\u306e\u75c5\u539f\u6027\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u307e\u305f\u3001\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5973\u6027\u3082\u3001\u7a00\u306b\u7db2\u819c\u7570\u5e38\u3084\u8efd\u5ea6\u306e\u8074\u899a\u969c\u5bb3\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u4e3b\u306b\u75c7\u72b6\u306e\u7ba1\u7406\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u307e\u3059\u3002\u773c\u79d1\u7684\u306a\u6cbb\u7642\u3068\u3057\u3066\u306f\u3001\u624b\u8853\u3084\u30ec\u30fc\u30b6\u30fc\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5b8c\u5168\u306b\u8996\u529b\u3092\u56de\u5fa9\u3055\u305b\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u3067\u3059\u3002\u8074\u899a\u969c\u5bb3\u306e\u9032\u884c\u3092\u9632\u3050\u305f\u3081\u306b\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u304c\u4f7f\u7528\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u9045\u6ede\u3084\u7cbe\u795e\u7684\u554f\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u304c\u542b\u307e\u308c\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\/12\/28859874_s.jpg\" alt=\"\" class=\"wp-image-88166\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ce\u30ea\u30fc\u75c5\u306f\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u300150\uff05\u306e\u78ba\u7387\u3067\u5b50\u3069\u3082\u306b\u5909\u7570\u304c\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u73fe\u5728\u3001\u30ce\u30ea\u30fc\u75c5\u306b\u95a2\u3059\u308b\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u3088\u308a\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u958b\u767a\u3055\u308c\u308b\u3053\u3068\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<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\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_KDM6A%E3%80%80%E6%AD%8C%E8%88%9E%E4%BC%8E%E7%97%87%E5%80%99%E7%BE%A42%EF%BC%88Kabuki_syndrome_2_KABUK2%EF%BC%89\"><\/span>[\uff12_KDM6A]\u3000\u6b4c\u821e\u4f0e\u75c7\u5019\u7fa42\uff08Kabuki syndrome 2 (KABUK2)\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\/2024\/11\/KDM6A-hgtIdeo_genome_1b4708_f40b00-1024x20.png\" alt=\"KDM6A\" class=\"wp-image-91115\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ab\u30d6\u30ad\u75c7\u5019\u7fa42\u578b\uff08Kabuki syndrome 2, KABUK2\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306eXp11.3\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bKDM6A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u307e\u305f\u3001\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia\uff09\u306e\u75c5\u56e0\u306b\u3082\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u533b\u5b66\u7684\u80cc\u666f\u304c\u306a\u3044\u65b9\u306b\u3082\u5206\u304b\u308a\u3084\u3059\u3044\u5f62\u3067\u8aac\u660e\u3092\u8a66\u307f\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30d6\u30ad\u75c7\u5019\u7fa42\u578b\u306e\u539f\u56e0\u3068\u306a\u308bKDM6A\u907a\u4f1d\u5b50\u306f\u3001\u30ea\u30b8\u30f3\u7279\u7570\u7684\u8131\u30e1\u30c1\u30eb\u5316\u9175\u7d206A\uff08Lysine-specific demethylase 6A, KDM6A\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u30d2\u30b9\u30c8\u30f3H3\u306e\u30ea\u30b8\u30f327\uff08Lys-27\uff09\u306e\u8131\u30e1\u30c1\u30eb\u5316\u3092\u62c5\u3044\u3001\u30d2\u30b9\u30c8\u30f3\u30b3\u30fc\u30c9\u3068\u547c\u3070\u308c\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u5236\u5fa1\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u4e09\u91cd\u30e1\u30c1\u30eb\u5316\u307e\u305f\u306f\u4e8c\u91cd\u30e1\u30c1\u30eb\u5316\u3055\u308c\u305f\u72b6\u614b\u306eLys-27\u3092\u8131\u30e1\u30c1\u30eb\u5316\u3059\u308b\u80fd\u529b\u3092\u6301\u3061\u307e\u3059\u304c\u3001\u5358\u4e00\u30e1\u30c1\u30eb\u5316\u3055\u308c\u305f\u72b6\u614b\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u901a\u3058\u3066\u3001\u5f8c\u90e8\u767a\u751f\u306e\u8abf\u7bc0\u306b\u5fc5\u8981\u306aHOX\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u307e\u305f\u3001Lys-27\u306e\u8131\u30e1\u30c1\u30eb\u5316\u306f\u3001Lys-4\u306e\u30e1\u30c1\u30eb\u5316\u3068\u95a2\u9023\u3057\u3066\u884c\u308f\u308c\u3001PRC1\u8907\u5408\u4f53\u306e\u30ea\u30af\u30eb\u30fc\u30c8\u3068\u30d2\u30b9\u30c8\u30f3H2A\u306e\u5358\u4e00\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u3053\u306e\u9175\u7d20\u306f\u3001T\u30dc\u30c3\u30af\u30b9\u30d5\u30a1\u30df\u30ea\u30fc\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u8abf\u7bc0\u306b\u95a2\u4e0e\u3059\u308b\u30af\u30ed\u30de\u30c1\u30f3\u518d\u7de8\u6210\u306b\u3082\u95a2\u308f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u306a\u304a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u3092\u56de\u907f\u3059\u308b\u7279\u6027\u3092\u6301\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\/30814077_s.jpg\" alt=\"\u304b\u307f\u5408\u308f\u306a\u3044\u3068\u3053\u308d\u306f\u3042\u308b\u3051\u3069\u305d\u308c\u3067\u3082\u5927\u4e08\u592b\" class=\"wp-image-91155\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>KDM6A\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30ab\u30d6\u30ad\u75c7\u5019\u7fa42\u578b\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u5148\u5929\u6027\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u7279\u5fb4\u3068\u3059\u308b\u75c5\u6c17\u3067\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u51fa\u751f\u5f8c\u306e\u4f4e\u8eab\u9577\u3001\u72ec\u7279\u306a\u9854\u7acb\u3061\uff08\u9577\u3044\u773c\u88c2\u3001\u4e0b\u773c\u77bc\u5916\u50741\/3\u306e\u53cd\u8ee2\u3001\u5e83\u304f\u4f4e\u3044\u9f3b\u5148\u3001\u5927\u304d\u304f\u76ee\u7acb\u3064\u8033\u305f\u3076\uff09\u3001\u53e3\u84cb\u88c2\u307e\u305f\u306f\u9ad8\u3044\u53e3\u84cb\u3001\u810a\u690e\u306e\u7570\u5e38\u3001\u77ed\u3044\u7b2c5\u6307\u3001\u80ce\u5150\u671f\u6307\u7d0b\u306e\u6301\u7d9a\u3001\u9aa8\u30fb\u95a2\u7bc0\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u7570\u5e38\u3001\u5e7c\u5c11\u671f\u306e\u4e2d\u8033\u708e\u306e\u53cd\u5fa9\u306a\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30d6\u30ad\u75c7\u5019\u7fa4\u5168\u822c\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3057\u3066\u3001\u7279\u6709\u306e\u9854\u8c8c\uff08\u9577\u3044\u773c\u88c2\u3001\u5f13\u72b6\u3067\u5e83\u3044\u7709\u3001\u77ed\u3044\u9f3b\u67f1\u3068\u4f4e\u3044\u9f3b\u5148\u3001\u5927\u304d\u304f\u7a81\u51fa\u307e\u305f\u306f\u30ab\u30c3\u30d7\u72b6\u306e\u8033\uff09\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\u3001\u8efd\u5ea6\u306e\u9aa8\u683c\u7570\u5e38\u3001\u80ce\u5150\u671f\u6307\u7d0b\u306e\u6301\u7d9a\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u306e\u7570\u5e38\u3001\u53e3\u5507\u88c2\u307e\u305f\u306f\u53e3\u84cb\u88c2\u3001\u6d88\u5316\u5668\u7cfb\u306e\u7570\u5e38\uff08\u809b\u9580\u9589\u9396\u306a\u3069\uff09\u3001\u773c\u77bc\u4e0b\u5782\u3001\u659c\u8996\u3001\u5e83\u304f\u96e2\u308c\u305f\u6b6f\u3084\u6b6f\u6b20\u640d\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u67d3\u75c7\u3084\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u3078\u306e\u611f\u53d7\u6027\u306e\u5897\u52a0\u3001\u3066\u3093\u304b\u3093\u3001\u5185\u5206\u6ccc\u7570\u5e38\uff08\u5973\u6027\u3067\u306f\u65e9\u767a\u4e73\u623f\u767a\u80b2\uff09\u3001\u6442\u98df\u56f0\u96e3\u3001\u8074\u899a\u969c\u5bb3\u3082\u307f\u3089\u308c\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23563729_s.jpg\" alt=\"\u62b1\u304d\u3057\u3081\u308b\" class=\"wp-image-91158\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u6761\u4ef6\u3092\u57fa\u306b\u78ba\u7acb\u3055\u308c\u307e\u3059\u3002\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u5ef6\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u75c5\u6b74\u304c\u3042\u308a\u30011) \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u9577\u3044\u773c\u88c2\u3068\u5c11\u306a\u304f\u3068\u30822\u3064\u4ee5\u4e0a\u306e\u7279\u5fb4\u7684\u9854\u8c8c\uff09\u30012) KMT2D\u307e\u305f\u306fKDM6A\u306e\u75c5\u7684\u5909\u7570\u306e\u5b58\u5728\u304c\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u4e3b\u306b\u75c7\u72b6\u306e\u7ba1\u7406\u306b\u7126\u70b9\u3092\u5f53\u3066\u307e\u3059\u3002\u4f8b\u3068\u3057\u3066\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u306b\u5bfe\u3057\u3066\u98df\u4e8b\u306e\u3068\u308d\u307f\u4ed8\u3051\u3084\u59ff\u52e2\u306e\u5de5\u592b\u3001\u6442\u98df\u56f0\u96e3\u304c\u91cd\u3044\u5834\u5408\u306f\u80c3\u763b\u8a2d\u7f6e\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u8a8d\u77e5\u6a5f\u80fd\u306e\u554f\u984c\u306b\u306f\u5fc3\u7406\u6559\u80b2\u7684\u691c\u67fb\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6a19\u6e96\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u6cbb\u7642\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u4e88\u9632\u7684\u306a\u6297\u751f\u7269\u8cea\u6cbb\u7642\u304c\u5fc5\u8981\u3068\u306a\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4569031_s.jpg\" alt=\"\u304a\u304f\u3059\u308a\" class=\"wp-image-91161\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ab\u30d6\u30ad\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u7684\u8981\u56e0\u3068\u3057\u3066\u3001KMT2D\u95a2\u9023\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3001KDM6A\u95a2\u9023\u306fX\u9023\u9396\u6027\u907a\u4f1d\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u524d\u8005\u3067\u306f\u3001\u65b0\u751f\u5909\u7570\u306b\u3088\u308b\u75c7\u4f8b\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5f8c\u8005\u3067\u306f\u3001\u6bcd\u89aa\u304c\u5909\u7570\u3092\u4fdd\u6709\u3059\u308b\u5834\u5408\u3001\u7537\u6027\u5b50\u4f9b\u304c\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u304c\u3001\u5973\u6027\u306e\u5834\u5408\u306f\u7279\u5fb4\u304c\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u767a\u751f\u7387\u306f\u3001\u65e5\u672c\u306b\u304a\u3044\u3066\u51fa\u751f32,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9069\u5207\u306a\u7ba1\u7406\u3068\u652f\u63f4\u306b\u3088\u308a\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\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    <a href=\"\/nipt\/1q43_q44\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">1q43-q44\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">1q43-q44\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u65b9\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u65e9\u671f\u4ecb\u5165\u3068\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u306e\u91cd...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\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%93_RP2%E3%80%80%E7%B6%B2%E8%86%9C%E8%89%B2%E7%B4%A0%E5%A4%89%E6%80%A7%E7%97%872%E5%9E%8B%EF%BC%88Retinitis_pigmentosa_2_RP2%EF%BC%89\"><\/span>[\uff13_RP2]\u3000\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b\uff08Retinitis pigmentosa 2 (RP2)\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\/2024\/11\/RP2-hgtIdeo_genome_1ebdb4_f43760-1024x20.png\" alt=\"RP2\" class=\"wp-image-91122\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b\uff08Retinitis pigmentosa 2, RP2\uff09\u306f\u3001\u907a\u4f1d\u5b50RP2\u306b\u304a\u3051\u308b\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f53Xp11.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002RP2\u907a\u4f1d\u5b50\u306f\u3001XRP2\u3068\u547c\u3070\u308c\u308b\u7279\u6b8a\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5185\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3044\u3001\u30b4\u30eb\u30b8\u4f53\u3068\u7dda\u6bdb\u819c\u306e\u9593\u3067\u7269\u8cea\u3092\u904b\u642c\u3059\u308bGTPase\u6d3b\u6027\u5316\u30bf\u30f3\u30d1\u30af\u8cea\uff08GTPase-activating protein, GAP\uff09\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u3053\u306e\u8f38\u9001\u6a5f\u80fd\u306f\u3001\u7dda\u6bdb\u819c\u4e0a\u306b\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u9069\u5207\u306b\u914d\u7f6e\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001XRP2\u306fADP\u30ea\u30dc\u30b7\u30eb\u5316\u56e0\u5b50\u69d8\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u5bfe\u3059\u308b\u30b0\u30a2\u30cb\u30f3\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u89e3\u96e2\u963b\u5bb3\u56e0\u5b50\u3068\u3057\u3066\u3082\u50cd\u304d\u307e\u3059\u304c\u3001\u7d30\u80de\u9aa8\u683c\u306e\u69cb\u7bc9\u306b\u95a2\u4e0e\u3059\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306e\u4e8c\u91cf\u4f53\u5316\u3092\u4fc3\u9032\u3059\u308b\u6a5f\u80fd\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>RP2\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7db2\u819c\u306e\u8996\u7d30\u80de\u3067\u3042\u308b\u6746\u4f53\u7d30\u80de\u3068\u9310\u4f53\u7d30\u80de\u3067\u5e83\u304f\u767a\u73fe\u3057\u3066\u3044\u307e\u3059\u3002\u8996\u7d30\u80de\u5185\u3067\u306f\u3001\u5916\u7bc0\u304b\u3089\u5185\u7bc0\u3001\u5916\u6838\u5c64\uff08ONL\uff09\u307e\u3067\u5206\u5e03\u3057\u3001\u3055\u3089\u306b\u5916\u7db2\u72b6\u5c64\uff08OPL\uff09\u306e\u30b7\u30ca\u30d7\u30b9\u672b\u7aef\u306b\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u5185\u6838\u5c64\uff08INL\uff09\u306e\u53cc\u6975\u7d30\u80de\u3001\u6c34\u5e73\u7d30\u80de\u3001\u30a2\u30de\u30af\u30ea\u30f3\u7d30\u80de\u3068\u3044\u3063\u305f\u7d30\u80de\u3084\u3001\u5185\u7db2\u72b6\u5c64\uff08IPL\uff09\u3001\u795e\u7d4c\u7bc0\u7d30\u80de\u5c64\uff08GCL\uff09\u3001\u795e\u7d4c\u7dda\u7dad\u5c64\uff08NFL\uff09\u306b\u3082\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/22598242_s.jpg\" alt=\"\u5f69\u96f2\" class=\"wp-image-91165\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>RP2\u907a\u4f1d\u5b50\u304c\u640d\u50b7\u3092\u53d7\u3051\u308b\u3068\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c72\u578b\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u8272\u7d20\u6027\u7db2\u819c\u75c7\u3068\u3044\u3046\u75c5\u6c17\u306e\u4e00\u7a2e\u3067\u3001\u6700\u521d\u306b\u6746\u4f53\u8996\u7d30\u80de\u304c\u6a5f\u80fd\u4e0d\u5168\u306b\u9665\u308a\u3001\u305d\u306e\u5f8c\u306b\u9310\u4f53\u8996\u7d30\u80de\u3082\u640d\u50b7\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u9032\u884c\u3057\u307e\u3059\u3002\u521d\u671f\u306e\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u591c\u9593\u306e\u8996\u529b\u4f4e\u4e0b\u3092\u793a\u3059\u591c\u76f2\u75c7\u3084\u3001\u8996\u91ce\u306e\u4e2d\u9593\u5468\u8fba\u90e8\u5206\u306e\u55aa\u5931\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u3055\u3089\u306b\u9060\u304f\u306e\u8996\u91ce\u304c\u5931\u308f\u308c\u3001\u6700\u7d42\u7684\u306b\u306f\u4e2d\u5fc3\u8996\u91ce\u3082\u6d88\u5931\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u5168\u822c\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u8996\u91ce\u306e\u72ed\u7a84\u3001\u591c\u76f2\u75c7\u3001\u305d\u3057\u3066\u773c\u5e95\u691c\u67fb\u3067\u89b3\u5bdf\u3055\u308c\u308b\u300c\u9aa8\u5c0f\u4f53\u69d8\u300d\u3068\u547c\u3070\u308c\u308b\u8272\u7d20\u6c88\u7740\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u308a\u7570\u306a\u308a\u3001\u767d\u4eba\u96c6\u56e3\u3067\u306f\u6700\u3082\u591a\u3044\u306e\u304c\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff0884%\uff09\u3067\u3001\u6b21\u3044\u3067\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff0810%\uff09\u3001X\u9023\u9396\u52a3\u6027\uff086%\uff09\u304c\u5c11\u6570\u6d3e\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>X\u9023\u9396\u578b\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08XLRP\uff09\u306f\u3001\u8108\u7d61\u7db2\u819c\u5909\u6027\u307e\u305f\u306f\u8272\u7d20\u6027\u7db2\u819c\u75c7\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u578b\u306e\u60a3\u8005\u306f\u3001\u7279\u306b\u7537\u6027\u3067\u3001\u773c\u5e95\u306b\u5178\u578b\u7684\u306a\u9aa8\u5c0f\u4f53\u69d8\u306e\u8272\u7d20\u6c88\u7740\u3084\u9032\u884c\u6027\u306e\u8108\u7d61\u786c\u5316\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u8996\u529b\u306e\u5f90\u3005\u306e\u4f4e\u4e0b\u3092\u4f34\u3044\u3001\u6700\u7d42\u7684\u306b\u5931\u660e\u3059\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u5973\u6027\u306e\u4fdd\u56e0\u8005\u306e\u5834\u5408\u306f\u3001\u4e2d\u5e74\u4ee5\u964d\u306b\u8996\u529b\u4f4e\u4e0b\u3084\u7db2\u819c\u7570\u5e38\u304c\u73fe\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u9032\u884c\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u8996\u529b\u6a5f\u80fd\u306e\u4e88\u6e2c\u306b\u306f\u3001\u5149\u899a\u95be\u5024\u3084\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306e\u691c\u67fb\u304c\u5f79\u7acb\u3061\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\/2024\/11\/24562847_s.jpg\" alt=\"\u697d\u8b5c\u3000\u8272\" class=\"wp-image-91169\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>RP2\u578b\u306e\u60a3\u8005\u3067\u306f\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b2\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u767a\u75c7\u578b\u306f\u91cd\u5ea6\u306e\u8fd1\u8996\u3092\u4f34\u3044\u3001\u5e73\u5747\u3057\u30663\u6b73\u9803\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u4e00\u65b9\u3001\u9045\u767a\u578b\u306f\u8efd\u5ea6\u306e\u8fd1\u8996\u307e\u305f\u306f\u591c\u76f2\u3092\u4f34\u3044\u3001\u5e73\u574710\u6b73\u9803\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u9055\u3044\u306f\u3001\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u306fRP2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u524d\u8005\u306b\u3001RP3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u5f8c\u8005\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306b\u95a2\u3057\u3066\u306f\u3001\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u65b9\u6cd5\u3084\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3001\u5fc3\u7406\u7684\u652f\u63f4\u306a\u3069\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u7d2b\u5916\u7dda\u3092\u9632\u3050\u773c\u93e1\u306e\u4f7f\u7528\u3084\u3001\u30d3\u30bf\u30df\u30f3A\u306e\u88dc\u5145\u7642\u6cd5\u304c\u63d0\u6848\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u30d3\u30bf\u30df\u30f3A\u7642\u6cd5\u306b\u306f\u809d\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08\u4f8b: ABCA4\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3092\u6301\u3064\u60a3\u8005\u306b\u306f\u9069\u5fdc\u3055\u308c\u307e\u305b\u3093\u3002\u5408\u4f75\u75c7\u3068\u3057\u3066\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u306e\u306f\u767d\u5185\u969c\u3068\u9ec4\u6591\u6d6e\u816b\u3067\u3001\u767d\u5185\u969c\u306e\u5834\u5408\u306f\u624b\u8853\u3001\u9ec4\u6591\u6d6e\u816b\u306e\u5834\u5408\u306f\u85ac\u7269\u7642\u6cd5\u304c\u4e00\u822c\u7684\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=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25617060_s.jpg\" alt=\"\u7247\u624b\u3067\u80a9\u307d\u3093\" class=\"wp-image-88173\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5fc3\u7406\u7684\u652f\u63f4\u3082\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u8a3a\u65ad\u306e\u6642\u70b9\u3084\u8996\u529b\u306e\u4f4e\u4e0b\u304c\u9855\u8457\u306b\u306a\u308b\u7bc0\u76ee\u3067\u3001\u60a3\u8005\u304c\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u3092\u8efd\u6e1b\u3067\u304d\u308b\u3088\u3046\u3001\u5c02\u9580\u5bb6\u3084\u60a3\u8005\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u63d0\u4f9b\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u65b0\u305f\u306a\u30b9\u30ad\u30eb\u7fd2\u5f97\u3092\u652f\u63f4\u3059\u308b\u6a5f\u95a2\u3078\u306e\u7d39\u4ecb\u3082\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001RP2\u578b\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7d30\u80de\u6cbb\u7642\u306a\u3069\u306e\u65b0\u3057\u3044\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u304c\u75be\u60a3\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u3001\u9069\u5207\u306a\u30b1\u30a2\u3092\u53d7\u3051\u3089\u308c\u308b\u3088\u3046\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u305f\u652f\u63f4\u304c\u6c42\u3081\u3089\u308c\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=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_NDUFB11%E3%80%80%E5%A4%9A%E7%99%BA%E6%80%A7%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E7%B7%9A%E7%8A%B6%E7%9A%AE%E8%86%9A%E6%AC%A0%E6%90%8D_3%EF%BC%88Linear_skin_defects_with_multiple_congenital_anomalies_3_LSDMCA3%EF%BC%89\"><\/span>[\uff14_NDUFB11]\u3000\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u7dda\u72b6\u76ae\u819a\u6b20\u640d 3\uff08Linear skin defects with multiple congenital anomalies 3 (LSDMCA3)\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\/2024\/11\/b47f3a82301bb1cccd89462d51bdc4ab-1024x20.png\" alt=\"NDUFB11\u3000\" class=\"wp-image-91129\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>LSDMCA3\uff08Linear skin defects with multiple congenital anomalies 3\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u76ae\u819a\u3001\u76ee\u3001\u795e\u7d4c\u7cfb\u3001\u5fc3\u81d3\u306a\u3069\u306e\u8907\u6570\u306e\u81d3\u5668\u3084\u7d44\u7e54\u306b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u306f\u3001NDUFB11\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3057\u3001\u4f53\u5185\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308a\u51fa\u3059\u91cd\u8981\u306a\u50cd\u304d\u3092\u3059\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002NDUFB11\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001NADH\u8131\u6c34\u7d20\u9175\u7d20\uff08Complex I\uff09\u306e\u4e00\u90e8\u3092\u69cb\u6210\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u30a8\u30cd\u30eb\u30ae\u30fc\u751f\u6210\u306e\u904e\u7a0b\u3067\u96fb\u5b50\u3092\u904b\u3076\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002NDUFB11\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u3053\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u751f\u6210\u904e\u7a0b\u304c\u9069\u5207\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>LSDMCA3\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u51fa\u751f\u6642\u306b\u9854\u3084\u9996\u306b\u898b\u3089\u308c\u308b\u7dda\u72b6\u306e\u76ae\u819a\u6b20\u640d\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u76ae\u819a\u7570\u5e38\u306f\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u81ea\u7136\u306b\u6cbb\u7652\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6700\u7d42\u7684\u306b\u306f\u76ee\u7acb\u305f\u306a\u3044\u7a0b\u5ea6\u306e\u75d5\u8de1\u3092\u6b8b\u3059\u306e\u307f\u3067\u3059\u3002\u76ee\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u6d99\u7ba1\u9589\u9396\u3001\u8fd1\u8996\u3001\u659c\u8996\u3001\u773c\u632f\uff08\u76ee\u304c\u4e0d\u898f\u5247\u306b\u52d5\u304f\u75c7\u72b6\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u81d3\u306b\u95a2\u3059\u308b\u7570\u5e38\u3082\u983b\u7e41\u306b\u898b\u3089\u308c\u3001\u7279\u306b\u5fc3\u7b4b\u75c7\uff08\u5fc3\u81d3\u306e\u7b4b\u8089\u304c\u5f31\u304f\u306a\u308a\u6b63\u5e38\u306b\u50cd\u304b\u306a\u304f\u306a\u308b\u75c5\u6c17\uff09\u304c\u591a\u3044\u3067\u3059\u3002\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u8133\u6881\uff08\u5de6\u53f3\u306e\u8133\u534a\u7403\u3092\u3064\u306a\u3050\u69cb\u9020\uff09\u306e\u6b20\u640d\u3084\u5074\u8133\u5ba4\u306e\u62e1\u5927\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u304c\u6319\u3052\u3089\u308c\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\/28199685_s.jpg\" alt=\"\u75d9\u6523\" class=\"wp-image-91175\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306fX\u9023\u9396\u6027\u512a\u6027\u907a\u4f1d\u306e\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u901a\u5e38\u7537\u6027\u3067\u306f\u767a\u75c7\u3057\u306a\u3044\u4e00\u65b9\u3001\u4e3b\u306b\u5973\u6027\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u307e\u3059\u3002\u7a00\u306b\u3001\u8efd\u75c7\u306e\u6bcd\u89aa\u304b\u3089\u91cd\u75c7\u306e\u5a18\u304c\u751f\u307e\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08de novo\u5909\u7570\uff09\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u4f8b\u3068\u3057\u3066\u3001\u3053\u308c\u307e\u3067\u306b2\u4eba\u306e\u7121\u95a2\u4fc2\u306a\u5973\u5150\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u30021\u4eba\u76ee\u306e\u60a3\u8005\u306f\u51fa\u751f\u6642\u306b\u9854\u3068\u9996\u306b\u7dda\u72b6\u306e\u76ae\u819a\u6b20\u640d\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u304c\u3001\u751f\u5f8c\u6570\u304b\u6708\u3067\u3053\u308c\u3089\u306f\u6d88\u5931\u3057\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u7b4b\u8089\u304c\u67d4\u3089\u304b\u304f\u529b\u3092\u5165\u308c\u306b\u304f\u3044\u72b6\u614b\uff09\u3084\u6210\u9577\u969c\u5bb3\u304c\u3042\u308a\u3001\u751f\u5f8c\u6570\u304b\u6708\u3067\u5fc3\u505c\u6b62\u3092\u8d77\u3053\u3057\u3066\u4ea1\u304f\u306a\u308a\u307e\u3057\u305f\u30022\u4eba\u76ee\u306e\u60a3\u8005\u3067\u306f\u3001\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u3001\u51fa\u751f\u5f8c2\u304b\u6708\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u60a3\u8005\u306f\u5fc3\u7b4b\u75c7\u306e\u305f\u3081\u751f\u5f8c6\u304b\u6708\u3067\u5fc3\u81d3\u79fb\u690d\u3092\u53d7\u3051\u3001\u305d\u306e\u5f8c\u3082\u767a\u9054\u306e\u9045\u308c\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\u304c\u7d9a\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3001\u60a3\u8005\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3042\u308b\u60a3\u8005\u3067\u306f\u76ae\u819a\u306e\u7570\u5e38\u304c\u9855\u8457\u3067\u3042\u308b\u4e00\u65b9\u3001\u5225\u306e\u60a3\u8005\u3067\u306f\u76ee\u3084\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u304c\u76ee\u7acb\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8efd\u75c7\u306e\u89aa\u304c\u91cd\u75c7\u306e\u5b50\u3069\u3082\u3092\u6301\u3064\u30b1\u30fc\u30b9\u3082\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3092\u4e8b\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u96e3\u3057\u3044\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=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u76ae\u819a\u306e\u7570\u5e38\u306b\u306f\u76ae\u819a\u79d1\u533b\u306b\u3088\u308b\u30b1\u30a2\u304c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3084\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u306b\u306f\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002\u5fc3\u7b4b\u75c7\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u5fc3\u81d3\u5c02\u9580\u533b\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u8a3a\u5bdf\u3068\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u65e9\u671f\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u7279\u306bNDUFB11\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>LSDMCA3\u306f\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u3001\u767a\u9054\u969c\u5bb3\u3084\u4ed6\u306e\u907a\u4f1d\u6027\u75be\u60a3\u306b\u304a\u3051\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u5f79\u5272\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u91cd\u8981\u306a\u9375\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002\u3055\u3089\u306b\u3001\u7a00\u5c11\u75be\u60a3\u3067\u3042\u3063\u3066\u3082\u3001\u9069\u5207\u306a\u8a3a\u65ad\u3068\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u75be\u60a3\u306b\u3064\u3044\u3066\u533b\u7642\u8005\u3084\u4e00\u822c\u306e\u4eba\u3005\u304c\u77e5\u8b58\u3092\u6df1\u3081\u308b\u3053\u3068\u306f\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u652f\u63f4\u306b\u5927\u3044\u306b\u5f79\u7acb\u3064\u3068\u8003\u3048\u3089\u308c\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=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%95_UBA1%E3%80%80%E8%84%8A%E9%AB%84%E6%80%A7%E7%AD%8B%E8%90%8E%E7%B8%AE%E7%97%87X%E9%80%A3%E9%8E%962%EF%BC%88Spinal_muscular_atrophy_X-linked_2_SMAX2%EF%BC%89\"><\/span>[\uff15_UBA1]\u3000\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7X\u9023\u93962\uff08Spinal muscular atrophy X-linked 2 (SMAX2)\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\/2024\/11\/4fc3b75dfd5a30ada260765a60b1f5b4-1024x20.png\" alt=\"Xp11.3\u3000\" class=\"wp-image-91106\"\/><\/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\/2024\/11\/UBA1-hgtIdeo_genome_290b81_f4b630-1024x20.png\" alt=\"UBA1\" class=\"wp-image-91141\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7X\u9023\u9396\u578b2\u578b\uff08Spinal muscular atrophy X-linked 2, SMAX2\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u795e\u7d4c\u7b4b\u75be\u60a3\u3067\u3001X\u67d3\u8272\u4f53\u4e0a\u306eXp11.3\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bUBA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u4e3b\u306b\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u810a\u9ac4\u524d\u89d2\u7d30\u80de\u3068\u547c\u3070\u308c\u308b\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u304c\u5f90\u3005\u306b\u640d\u50b7\u3092\u53d7\u3051\u3001\u7d50\u679c\u3068\u3057\u3066\u7b4b\u529b\u4f4e\u4e0b\u3084\u7b4b\u840e\u7e2e\u3092\u4f34\u3046\u9032\u884c\u6027\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u3053\u306e\u75be\u60a3\u306f\u65e9\u671f\u306e\u91cd\u5ea6\u306a\u547c\u5438\u5668\u5408\u4f75\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u5b58\u671f\u9593\u304c\u77ed\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>UBA1\u907a\u4f1d\u5b50\u306f\u300c\u30e6\u30d3\u30ad\u30c1\u30f3\u69d8\u4fee\u98fe\u56e0\u5b50\u6d3b\u6027\u5316\u9175\u7d201\u300d\uff08Ubiquitin-like modifier-activating enzyme 1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u30e6\u30d3\u30ad\u30c1\u30f3-\u30d7\u30ed\u30c6\u30a2\u30bd\u30fc\u30e0\u7cfb\u3068\u547c\u3070\u308c\u308b\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5206\u89e3\u7d4c\u8def\u306e\u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7d4c\u8def\u306f\u3001\u7d30\u80de\u5185\u3067\u4e0d\u8981\u306b\u306a\u3063\u305f\u308a\u640d\u50b7\u3057\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5206\u89e3\u3059\u308b\u30b7\u30b9\u30c6\u30e0\u3067\u3042\u308a\u3001\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002UBA1\u9175\u7d20\u306f\u3001\u30e6\u30d3\u30ad\u30c1\u30f3\u3068\u3044\u3046\u5c0f\u3055\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u6d3b\u6027\u5316\u3057\u3001\u7279\u5b9a\u306e\u9175\u7d20\uff08E1\u9175\u7d20\uff09\u3068\u7d50\u5408\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u5206\u89e3\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u958b\u59cb\u3057\u307e\u3059\u3002\u3053\u306e\u904e\u7a0b\u306f\u3001\u5358\u306b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3\u306b\u7559\u307e\u3089\u305a\u3001DNA\u4fee\u5fa9\u3084\u7d30\u80de\u5206\u88c2\u30b9\u30c8\u30ec\u30b9\u3078\u306e\u5fdc\u7b54\u3001\u3055\u3089\u306b\u306fDNA\u640d\u50b7\u90e8\u4f4d\u3078\u306e\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u96c6\u7a4d\u306b\u3082\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002UBA1\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u3001\u3053\u308c\u3089\u306e\u91cd\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u304c\u59a8\u3052\u3089\u308c\u3001\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u306e\u7570\u5e38\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u3001SMAX2\u306e\u3088\u3046\u306a\u6df1\u523b\u306a\u75be\u60a3\u304c\u767a\u75c7\u3059\u308b\u3068\u8003\u3048\u3089\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\/2024\/11\/2683966_s1.jpg\" alt=\"\u304a\u3066\" class=\"wp-image-91178\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMAX2\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e3b\u306b\u7b4b\u8089\u306e\u4f4e\u7dca\u5f35\uff08\u7b4b\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u3001\u53cd\u5c04\u6d88\u5931\u3001\u305d\u3057\u3066\u5148\u5929\u6027\u306e\u95a2\u7bc0\u62d8\u7e2e\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u6700\u3082\u5927\u304d\u306a\u8ab2\u984c\u306e\u4e00\u3064\u306f\u3001\u547c\u5438\u7b4b\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u547c\u5438\u4e0d\u5168\u304c\u9032\u884c\u3059\u308b\u70b9\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u65e9\u671f\u306e\u547c\u5438\u7ba1\u7406\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u4e21\u65b9\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001UBA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u7537\u6027\u60a3\u8005\u3067\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002SMAX2\u306fX\u9023\u9396\u578b\u907a\u4f1d\u5f62\u5f0f\u3092\u6301\u3064\u305f\u3081\u3001\u5909\u7570\u907a\u4f1d\u5b50\u3092\u6301\u3064\u5973\u6027\u306f\u901a\u5e38\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u6b21\u4e16\u4ee3\u306b50%\u306e\u78ba\u7387\u3067\u5909\u7570\u3092\u4f1d\u3048\u308b\u53ef\u80fd\u6027\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28429172_s.jpg\" alt=\"\" class=\"wp-image-87940\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u60a3\u8005\u306e\u7ba1\u7406\u306b\u306f\u3001\u795e\u7d4c\u5185\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u547c\u5438\u5668\u79d1\u3001\u6804\u990a\u7642\u6cd5\u5c02\u9580\u5bb6\u306a\u3069\u3001\u591a\u5206\u91ce\u306e\u533b\u7642\u30c1\u30fc\u30e0\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u547c\u5438\u5668\u7ba1\u7406\u3067\u306f\u3001\u975e\u4fb5\u8972\u7684\u306a\u4eba\u5de5\u547c\u5438\u5668\uff08BiPAP\u306a\u3069\uff09\u306e\u4f7f\u7528\u304c\u63a8\u5968\u3055\u308c\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6c17\u7ba1\u5207\u958b\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u6804\u990a\u88dc\u7d66\u306e\u305f\u3081\u306e\u80c3\u763b\uff08\u3044\u308d\u3046\uff09\u9020\u8a2d\u3084\u3001\u4fbf\u79d8\u306e\u7ba1\u7406\u3082\u91cd\u8981\u3067\u3059\u3002\u9032\u884c\u6027\u306e\u95a2\u7bc0\u62d8\u7e2e\u3084\u810a\u67f1\u5074\u5f2f\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u5916\u79d1\u7684\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001SMAX2\u306f\u5f93\u6765\u306e\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\uff08Spinal muscular atrophy, SMA\uff09\u3068\u306f\u7570\u306a\u308b\u75c5\u614b\u3092\u793a\u3059\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u3060\u3051\u3067\u306a\u304f\u611f\u899a\u795e\u7d4c\u7cfb\u3082\u5f71\u97ff\u3092\u53d7\u3051\u3001\u5c0f\u8133\u306e\u767a\u9054\u3084\u9000\u884c\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u4e00\u90e8\u306e\u5c02\u9580\u5bb6\u306f\u3001SMAX2\u3092\u300c\u904b\u52d5\u30fb\u611f\u899a\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u300d\u3068\u3057\u3066\u5206\u985e\u3059\u3079\u304d\u3060\u3068\u8003\u3048\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\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001SMAX2\u306e\u60a3\u8005\u3067\u306f\u3001\u547c\u5438\u5668\u306e\u5408\u4f75\u75c7\u304c\u4e73\u5e7c\u5150\u671f\u306e\u6b7b\u4ea1\u306e\u4e3b\u306a\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4fb5\u8972\u7684\u6cbb\u7642\u3092\u884c\u3063\u305f\u4f8b\u3067\u306f\u3001\u307e\u308c\u306b10\u4ee3\u307e\u3067\u751f\u5b58\u3057\u305f\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u5834\u5408\u306b\u306f\u3001\u6cbb\u7642\u306e\u502b\u7406\u7684\u5074\u9762\u3084\u60a3\u8005\u30fb\u5bb6\u65cf\u306e\u610f\u601d\u6c7a\u5b9a\u3092\u5c0a\u91cd\u3059\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u5f8c\u306b\u3001SMAX2\u306e\u75c5\u614b\u306f\u3001UBA1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30e6\u30d3\u30ad\u30c1\u30f3-\u30d7\u30ed\u30c6\u30a2\u30bd\u30fc\u30e0\u7cfb\u306e\u7570\u5e38\u304c\u795e\u7d4c\u767a\u9054\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u77e5\u898b\u306f\u3001SMAX2\u306e\u3088\u3046\u306a\u5e0c\u5c11\u75be\u60a3\u306e\u6cbb\u7642\u6cd5\u958b\u767a\u306b\u3064\u306a\u304c\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5206\u89e3\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u3055\u3089\u306a\u308b\u7406\u89e3\u3092\u6df1\u3081\u308b\u624b\u304c\u304b\u308a\u3068\u3082\u306a\u308a\u5f97\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/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\/NBK2594\/\">Baumbach-Reardon L, Hunter JM, Ahearn ME, et al. Spinal Muscular Atrophy, X-Linked Infantile. 2008 Oct 30 [Updated 2024 May 9]. 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\/NBK2594\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2013.02.001\">Dlamini, N., Josifova, D. J., Paine, S. M., Wraige, E., Pitt, M., Murphy, A. J., King, A., Buk, S., Smith, F., Abbs, S., Sewry, C., Jacques, T. S., &amp; Jungbluth, H. (2013). Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. <em>Neuromuscular disorders : NMD<\/em>, <em>23<\/em>(5), 391\u2013398. https:\/\/doi.org\/10.1016\/j.nmd.2013.02.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes12020263\">Indrieri, A., &amp; Franco, B. (2021). Linear skin defects with multiple congenital anomalies (Lsdmca): An unconventional mitochondrial disorder. <em>Genes<\/em>, <em>12<\/em>(2), 263. https:\/\/doi.org\/10.3390\/genes12020263<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7041\/\">Morleo M, Franco B. Microphthalmia with Linear Skin Defects Syndrome. 2009 Jun 18 [Updated 2018 Jul 26]. 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\/NBK7041\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/1750-1172-1-40\">Hamel, C. (2006). Retinitis pigmentosa. <em>Orphanet Journal of Rare Diseases<\/em>, <em>1<\/em>(1), 40. https:\/\/doi.org\/10.1186\/1750-1172-1-40<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK62111\/\">Adam MP, Hudgins L, Hannibal M. Kabuki Syndrome. 2011 Sep 1 [Updated 2024 Apr 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\/NBK62111\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1331\/\">Scruggs BA, Reding MQ, Schimmenti LA. NDP-Related Retinopathies. 1999 Jul 30 [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\/NBK1331\/<\/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<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":86992,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83647","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83647","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83647"}],"version-history":[{"count":22,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83647\/revisions"}],"predecessor-version":[{"id":125362,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83647\/revisions\/125362"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/86992"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83647"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83647"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83647"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}