{"id":111874,"date":"2025-01-16T17:56:32","date_gmt":"2025-01-16T08:56:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/"},"modified":"2025-08-22T15:48:36","modified_gmt":"2025-08-22T06:48:36","slug":"17p13-1deletionsyndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans","title":{"rendered":"17p13.1\u7f3a\u5931\u7efc\u5408\u5f81\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\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91_DLG_DLG4_%E7%9B%B8%E5%85%B3%E7%AA%81%E8%A7%A6%E7%97%85%EF%BC%88DLG4-Related_Synaptopathy%EF%BC%89\" >[\uff11_DLG] DLG4 \u76f8\u5173\u7a81\u89e6\u75c5\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\/?lang=zh-hans\/#2_ACADVL_%E6%9E%81%E9%95%BF%E9%93%BE%E9%85%B0%E5%9F%BA%E8%BE%85%E9%85%B6A%E8%84%B1%E6%B0%A2%E9%85%B6%E7%BC%BA%E4%B9%8F%E7%97%87%EF%BC%88Very_Long-Chain_Acyl-Coenzyme_A_Dehydrogenase_Deficiency_VLCAD%E7%BC%BA%E4%B9%8F%E7%97%87%EF%BC%89\" >[2_ACADVL] \u6781\u957f\u94fe\u9170\u57fa\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, VLCAD\u7f3a\u4e4f\u75c7\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link 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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\/?lang=zh-hans\/#%EF%BC%93_CHRNB1_%E5%85%88%E5%A4%A9%E6%80%A7%E8%82%8C%E6%97%A0%E5%8A%9B%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Congenital_Myasthenic_Syndrome_CMS%EF%BC%89\" >[\uff13_CHRNB1] \u5148\u5929\u6027\u808c\u65e0\u529b\u7efc\u5408\u5f81\uff08Congenital Myasthenic Syndrome, CMS\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\/?lang=zh-hans\/#%EF%BC%94_MPDU1%E3%80%80N%E5%9E%8B%E7%B3%96%E9%93%BE%E9%99%84%E5%8A%A0%E4%B8%8E%E5%A4%9A%E9%80%9A%E8%B7%AF%E7%9A%84%E5%85%88%E5%A4%A9%E6%80%A7%E7%96%BE%E7%97%85%EF%BC%88Congenital_Disorders_of_N-Linked_Glycosylation_and_Multiple_Pathways%EF%BC%89\" >[\uff14_MPDU1]\u3000N\u578b\u7cd6\u94fe\u9644\u52a0\u4e0e\u591a\u901a\u8def\u7684\u5148\u5929\u6027\u75be\u75c5\uff08Congenital Disorders of N-Linked Glycosylation and Multiple Pathways\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\/?lang=zh-hans\/#%EF%BC%95_TP53%E3%80%80Wilms%E8%82%BF%E7%98%A4%E6%98%93%E6%84%9F%E7%BB%BC%E5%90%88%E5%BE%81%E3%80%81Li-Fraumeni%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Wilms_Tumor_Predisposition_Li-Fraumeni_Syndrome%EF%BC%89\" >[\uff15_TP53]\u3000Wilms\u80bf\u7624\u6613\u611f\u7efc\u5408\u5f81\u3001Li-Fraumeni\u7efc\u5408\u5f81\uff08Wilms Tumor Predisposition; Li-Fraumeni Syndrome\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\/?lang=zh-hans\/#%EF%BC%96_WRAP53%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%E5%8F%8A%E7%9B%B8%E5%85%B3%E7%AB%AF%E7%B2%92%E7%94%9F%E7%89%A9%E5%AD%A6%E7%96%BE%E7%97%85%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\" >[\uff16_WRAP53]\u3000\u5148\u5929\u6027\u53d1\u80b2\u4e0d\u826f\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5\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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%97_GUCY2D%E3%80%80Leber%E5%85%88%E5%A4%A9%E6%80%A7%E9%BB%91%E6%9C%A6%E3%80%81%E6%97%A9%E5%8F%91%E5%9E%8B%E9%87%8D%E5%BA%A6%E8%A7%86%E7%BD%91%E8%86%9C%E8%90%A5%E5%85%BB%E4%B8%8D%E8%89%AF%EF%BC%88Leber_Congenital_Amaurosis_Early-Onset_Severe_Retinal_Dystrophy%EF%BC%89\" >[\uff17_GUCY2D]\u3000Leber\u5148\u5929\u6027\u9ed1\u6726\u3001\u65e9\u53d1\u578b\u91cd\u5ea6\u89c6\u7f51\u819c\u8425\u517b\u4e0d\u826f\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%98_ALOX12B%EF%BC%99_ALOXE3%E3%80%80%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%9A%90%E6%80%A7%E5%85%88%E5%A4%A9%E6%80%A7%E9%B1%BC%E9%B3%9E%E7%97%85%EF%BC%88Autosomal_Recessive_Congenital_Ichthyosis%EF%BC%89\" >[\uff18_ALOX12B,\uff19_ALOXE3]\u3000\u5e38\u67d3\u8272\u4f53\u9690\u6027\u5148\u5929\u6027\u9c7c\u9cde\u75c5\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91%EF%BC%90_HES7%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E8%86%88%E7%96%9D%E3%80%81%E8%84%8A%E8%82%8B%E9%AA%A8%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%EF%BC%88Congenital_Diaphragmatic_Hernia_Spondylocostal_Dysostosis%EF%BC%89\" >[\uff11\uff10_HES7]\u3000\u5148\u5929\u6027\u8188\u759d\u3001\u810a\u808b\u9aa8\u53d1\u80b2\u4e0d\u826f\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91%EF%BC%91_TMEM107%E3%80%80Meckel%E7%BB%BC%E5%90%88%E5%BE%8113%E3%83%BBJoubert%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Meckel_syndrome_13%E3%83%BBJoubert_Syndrome%EF%BC%89\" >[\uff11\uff11_TMEM107]\u3000Meckel\u7efc\u5408\u5f8113\u30fbJoubert\u7efc\u5408\u5f81\uff08Meckel syndrome 13\u30fbJoubert Syndrome\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\/?lang=zh-hans\/#%EF%BC%91%EF%BC%92_CTC1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%E5%8F%8A%E7%9B%B8%E5%85%B3%E7%AB%AF%E7%B2%92%E7%94%9F%E7%89%A9%E5%AD%A6%E7%96%BE%E7%97%85%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\" >[\uff11\uff12_CTC1]\u3000\u5148\u5929\u6027\u53d1\u80b2\u4e0d\u826f\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91%EF%BC%93_RANGRF%E3%80%80Brugada%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Brugada_Syndrome%EF%BC%89\" >[\uff11\uff13_RANGRF]\u3000Brugada\u7efc\u5408\u5f81\uff08Brugada Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91%EF%BC%94_RPL26%E3%80%80Diamond-Blackfan%E8%B4%AB%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\" >[\uff11\uff14_RPL26]\u3000Diamond-Blackfan\u8d2b\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%EF%BC%91%EF%BC%95_NTN1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E9%95%9C%E5%83%8F%E8%BF%90%E5%8A%A8%EF%BC%88Congenital_Mirror_Movements%EF%BC%89\" >[\uff11\uff15_NTN1]\u3000\u5148\u5929\u6027\u955c\u50cf\u8fd0\u52a8\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >\u672a\u6765\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%96%87%E7%AB%A0%E6%91%98%E8%A6%81\"><\/span>\u6587\u7ae0\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p> \u732b\u9e23\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u75c5\uff0c\u5176\u7279\u5f81\u662f\u5728\u5a74\u513f\u671f\u53d1\u51fa\u7c7b\u4f3c\u732b\u53eb\u7684\u9ad8\u97f3\u54ed\u58f0\u3002\u8fd9\u79cd\u75be\u75c5\u662f\u7531\u4e8e\u7b2c5\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff085p\uff09\u90e8\u5206\u7f3a\u5931\u5f15\u8d77\u7684\uff0c\u53ef\u80fd\u5bfc\u81f4\u591a\u79cd\u8eab\u4f53\u3001\u53d1\u80b2\u53ca\u884c\u4e3a\u95ee\u9898\u3002\u901a\u8fc7\u65e9\u671f\u8bca\u65ad\u4e0e\u7efc\u5408\u5e72\u9884\uff0c\u53ef\u663e\u8457\u6539\u5584\u60a3\u8005\u7684\u53d1\u80b2\u548c\u751f\u6d3b\u8d28\u91cf\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E4%B8%AA%E5%9F%BA%E5%9B%A0%E5%BA%A7%E4%B8%8A%E9%AB%98%E5%BA%A6%E5%8F%AF%E8%83%BD%E6%B6%89%E5%8F%8A%E7%96%BE%E7%97%85%E7%9A%84%E5%9F%BA%E5%9B%A0\"><\/span>\u8fd9\u4e2a\u57fa\u56e0\u5ea7\u4e0a\u9ad8\u5ea6\u53ef\u80fd\u6d89\u53ca\u75be\u75c5\u7684\u57fa\u56e0<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<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u5e8f\u53f7<\/th><th>\u57fa\u56e0\u540d\u79f0<\/th><th>\u76f8\u5173\u75be\u75c5\u540d\u79f0\uff08\u4e2d\u6587\uff09<\/th><th>\u76f8\u5173\u75be\u75c5\u540d\u79f0\uff08\u82f1\u6587\uff09<\/th><\/tr><\/thead><tbody><tr><td>1<\/td><td><strong>DLG4<\/strong><\/td><td>DLG4\u76f8\u5173\u7a81\u89e6\u75c5<\/td><td>DLG4-Related Synaptopathy<\/td><\/tr><tr><td>2<\/td><td><strong>ACADVL<\/strong><\/td><td>\u6781\u957f\u94fe\u9170\u57fa\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7<\/td><td>Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency<\/td><\/tr><tr><td>3<\/td><td><strong>CHRNB1<\/strong><\/td><td>\u5148\u5929\u6027\u808c\u65e0\u529b\u7efc\u5408\u5f81<\/td><td>Congenital Myasthenic Syndrome<\/td><\/tr><tr><td>4<\/td><td><strong>MPDU1<\/strong><\/td><td>N\u578b\u7cd6\u94fe\u5408\u6210\u53ca\u591a\u6761\u4ee3\u8c22\u901a\u8def\u7684\u5148\u5929\u6027\u75be\u75c5<\/td><td>Congenital Disorders of N-Linked Glycosylation and Multiple Pathways<\/td><\/tr><tr><td>5<\/td><td><strong>TP53<\/strong><\/td><td>Wilms\u80bf\u7624\u6613\u611f\u7efc\u5408\u5f81\u3001Li-Fraumeni\u7efc\u5408\u5f81<\/td><td>Wilms Tumor Predisposition; Li-Faumeni Syndrome<\/td><\/tr><tr><td>6<\/td><td><strong>WRAP53<\/strong><\/td><td>\u5148\u5929\u6027\u89d2\u5316\u4e0d\u826f\u75c7\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5<\/td><td>Dyskeratosis Congenita and Related Telomere Biology Disorders<\/td><\/tr><tr><td>7<\/td><td><strong>GUCY2D<\/strong><\/td><td>Leber\u5148\u5929\u6027\u9ed1\u6726\u3001\u65e9\u53d1\u578b\u4e25\u91cd\u89c6\u7f51\u819c\u8425\u517b\u4e0d\u826f<\/td><td>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>8<\/td><td><strong>ALOX12B<\/strong><\/td><td>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u5148\u5929\u6027\u9c7c\u9cde\u75c5<\/td><td>Autosomal Recessive Congenital Ichthyosis<\/td><\/tr><tr><td>9<\/td><td><strong>ALOXE3<\/strong><\/td><td>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u5148\u5929\u6027\u9c7c\u9cde\u75c5<\/td><td>Autosomal Recessive Congenital Ichthyosis<\/td><\/tr><tr><td>10<\/td><td><strong>HES7<\/strong><\/td><td>\u5148\u5929\u6027\u8188\u759d\u3001\u810a\u808b\u9aa8\u53d1\u80b2\u4e0d\u826f<\/td><td>Congenital Diaphragmatic Hernia; Spondylocostal Dysostosis<\/td><\/tr><tr><td>11<\/td><td><strong>TMEM107<\/strong><\/td><td>Meckel\u7efc\u5408\u5f8113\u578b\u3001Joubert\u7efc\u5408\u5f81<\/td><td>Meckel syndrome 13\u30fbJoubert Syndrome<\/td><\/tr><tr><td>12<\/td><td><strong>CTC1<\/strong><\/td><td>\u5148\u5929\u6027\u89d2\u5316\u4e0d\u826f\u75c7\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5<\/td><td>Dyskeratosis Congenita and Related Telomere Biology Disorders<\/td><\/tr><tr><td>13<\/td><td><strong>RANGRF<\/strong><\/td><td>Brugada\u7efc\u5408\u5f81<\/td><td>Brugada Syndrome<\/td><\/tr><tr><td>14<\/td><td><strong>RPL26<\/strong><\/td><td>Diamond-Blackfan\u8d2b\u8840<\/td><td>Diamond-Blackfan Anemia<\/td><\/tr><tr><td>15<\/td><td><strong>NTN1<\/strong><\/td><td>\u5148\u5929\u6027\u955c\u50cf\u52a8\u4f5c<\/td><td>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_DLG4_%E7%9B%B8%E5%85%B3%E7%AA%81%E8%A7%A6%E7%97%85%EF%BC%88DLG4-Related_Synaptopathy%EF%BC%89\"><\/span>[\uff11_DLG] DLG4 \u76f8\u5173\u7a81\u89e6\u75c5\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\u76f8\u5173\u7a81\u89e6\u75c5\u662f\u4e00\u79cd\u7531DLG4\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\u7f55\u89c1\u9057\u4f20\u75be\u75c5\u3002\u8be5\u57fa\u56e0\u7f16\u7801\u4e00\u79cd\u91cd\u8981\u7684\u86cb\u767d\u8d28\u2014\u2014PSD-95\uff08\u7a81\u89e6\u540e\u81f4\u5bc6\u86cb\u767d95\uff09\uff0c\u5b83\u5728\u5927\u8111\u4e2d\u8c03\u8282\u5174\u594b\u6027\u7a81\u89e6\u529f\u80fd\u3002\u8be5\u75be\u75c5\u7684\u4e3b\u8981\u7279\u5f81\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\uff08\u591a\u4e3a\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\uff09\u3001\u4ee5\u53ca\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3002\u6b64\u5916\uff0c\u5927\u7ea6\u4e00\u534a\u7684\u60a3\u8005\u4f1a\u51fa\u73b0\u766b\u75eb\uff0c\u5927\u7ea640%\u7684\u60a3\u8005\u4f1a\u51fa\u73b0\u8fd0\u52a8\u529f\u80fd\u6216\u8bed\u8a00\u80fd\u529b\u7684\u9000\u884c\u3002<br>\u5176\u4ed6\u795e\u7ecf\u5b66\u75c7\u72b6\u5305\u62ec\u808c\u5f20\u529b\u4f4e\u4e0b\uff08\u4f4e\u808c\u5f20\u529b\uff09\u3001\u91cd\u590d\u52a8\u4f5c\u3001\u5171\u6d4e\u5931\u8c03\uff08\u8fd0\u52a8\u534f\u8c03\u969c\u788d\uff09\u3001\u808c\u5f20\u529b\u969c\u788d\u3001\u9707\u98a4\u4ee5\u53ca\u504f\u5934\u75db\u3002\u7761\u7720\u969c\u788d\u4e5f\u5f88\u5e38\u89c1\uff0c\u5e38\u8868\u73b0\u4e3a\u5165\u7761\u56f0\u96be\u6216\u7761\u7720\u7ef4\u6301\u56f0\u96be\u3002\u6b64\u5916\uff0c\u8fd8\u4f1a\u51fa\u73b0\u659c\u89c6\u3001\u8fdc\u89c6\u3001\u773c\u7403\u9707\u98a4\u4ee5\u53ca\u5927\u8111\u76ae\u8d28\u6027\u76f2\u7b49\u773c\u90e8\u5f02\u5e38\u3002\u6709\u65f6\u766b\u75eb\u53d1\u4f5c\u3001\u6655\u8f66\u6216\u75b2\u52b3\u53ef\u5f15\u8d77\u5455\u5410\u3002\u8eab\u4f53\u7279\u5f81\u4e0a\uff0c\u5173\u8282\u8fc7\u5ea6\u67d4\u97e7\uff08\u7ea637%\uff09\u4ee5\u53ca\u810a\u67f1\u4fa7\u5f2f\uff08\u7ea620%\uff09\u76f8\u5bf9\u5e38\u89c1\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>\u76ee\u524d\u5c1a\u65e0\u6839\u6cbbDLG4\u76f8\u5173\u7a81\u89e6\u75c5\u7684\u65b9\u6cd5\uff0c\u6cbb\u7597\u7684\u91cd\u70b9\u662f\u75c7\u72b6\u7ba1\u7406\u4e0e\u751f\u6d3b\u8d28\u91cf\u6539\u5584\u3002\u6839\u636e\u60a3\u8005\u7684\u4e2a\u4f53\u9700\u6c42\uff0c\u5bf9\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u766b\u75eb\u3001\u504f\u5934\u75db\u3001\u5171\u6d4e\u5931\u8c03\u3001\u808c\u5f20\u529b\u969c\u788d\u3001\u89c6\u529b\u969c\u788d\u7b49\u75c7\u72b6\u8fdb\u884c\u9488\u5bf9\u6027\u5e72\u9884\u3002\u5bf9\u4e8e\u5931\u7720\uff0c\u884c\u4e3a\u7597\u6cd5\u6709\u65f6\u6709\u6548\uff0c\u4e25\u91cd\u7761\u7720\u969c\u788d\u65f6\u53ef\u8003\u8651\u836f\u7269\u6cbb\u7597\u3002<br>\u75be\u75c5\u7ba1\u7406\u9700\u8981\u5b9a\u671f\u590d\u67e5\u548c\u76d1\u6d4b\u3002\u5728\u5c31\u8bca\u8fc7\u7a0b\u4e2d\uff0c\u9700\u8981\u8bc4\u4f30\u662f\u5426\u51fa\u73b0\u65b0\u7684\u75c7\u72b6\uff0c\u4f8b\u5982\u766b\u75eb\u53d1\u4f5c\u3001\u8fd0\u52a8\u529f\u80fd\u53d8\u5316\u3001\u808c\u5f20\u529b\u53d8\u5316\u3001\u504f\u5934\u75db\u7b49\u3002\u540c\u65f6\u8fd8\u9700\u8bc4\u4f30\u53d1\u80b2\u8fdb\u5c55\u3001\u884c\u52a8\u80fd\u529b\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u6280\u80fd\u3002\u5728\u513f\u7ae5\u6210\u957f\u8fc7\u7a0b\u4e2d\uff0c\u7126\u8651\u3001\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u653b\u51fb\u884c\u4e3a\u548c\u81ea\u4f24\u884c\u4e3a\u7b49\u95ee\u9898\u4e5f\u53ef\u80fd\u51fa\u73b0\uff0c\u9700\u8981\u8fdb\u884c\u9002\u5f53\u5e72\u9884\u3002\u773c\u79d1\u68c0\u67e5\u5efa\u8bae\u6bcf\u5e74\u4e00\u6b21\u6216\u6309\u9700\u8fdb\u884c\uff1b\u82e5\u51fa\u73b0\u53d1\u80b2\u9000\u884c\u6216\u8111\u7535\u56fe\u5f02\u5e38\uff0c\u5219\u5e94\u8003\u8651\u8fdb\u884c24\u5c0f\u65f6\u8111\u7535\u56fe\u76d1\u6d4b\uff08EEG\uff09\u3002<\/p>\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\u76f8\u5173\u7a81\u89e6\u75c5\u901a\u5e38\u662f\u7531\u4e8eDLG4\u57fa\u56e0\u7684\u65b0\u53d1\uff08de novo\uff09\u81f4\u75c5\u7a81\u53d8\u5f15\u8d77\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5\u3002\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u53ef\u80fd\u7531\u643a\u5e26\u5d4c\u5408\u578b\u6216\u6742\u5408\u578b\u7a81\u53d8\u7684\u7236\u6bcd\u9057\u4f20\uff0c\u4f46\u5bb6\u65cf\u5185\u590d\u53d1\u98ce\u9669\u901a\u5e38\u8f83\u4f4e\u3002\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u786e\u8ba4\u81f4\u75c5\u7a81\u53d8\uff0c\u53ef\u4ee5\u4e3a\u672a\u6765\u598a\u5a20\u63d0\u4f9b\u4ea7\u524d\u8bca\u65ad\u6216\u690d\u5165\u524d\u9057\u4f20\u5b66\u8bca\u65ad\u7684\u9009\u62e9\u3002<br>\u8be5\u75be\u75c5\u7684\u9884\u540e\uff08\u5bff\u547d\uff09\u5c1a\u4e0d\u660e\u786e\uff0c\u4f46\u5df2\u670947\u5c81\u751f\u5b58\u7684\u75c5\u4f8b\u62a5\u544a\uff0c\u63d0\u793a\u60a3\u8005\u6709\u751f\u5b58\u81f3\u6210\u5e74\u671f\u7684\u53ef\u80fd\u3002\u8fc7\u53bb\u66fe\u8ba4\u4e3a\u8be5\u75be\u75c5\u6709\u9a6c\u51e1\u6837\u4f53\u578b\u6216\u7279\u5f81\u6027\u9762\u5bb9\uff0c\u4f46\u6700\u65b0\u7814\u7a76\u8868\u660e\u8fd9\u4e9b\u5e76\u975e\u5e38\u89c1\u7279\u5f81\u3002\u5927\u591a\u6570\u75c5\u4f8b\u7684\u53d1\u75c5\u673a\u5236\u4e0eDLG4\u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4\u7684\u86cb\u767d\u529f\u80fd\u7f3a\u5931\u6709\u5173\u3002\u4e34\u5e8a\u8868\u73b0\u548c\u75c5\u60c5\u4e25\u91cd\u7a0b\u5ea6\u5728\u4e0d\u540c\u4e2a\u4f53\u95f4\u5dee\u5f02\u8f83\u5927\uff0c\u4e3b\u8981\u5f71\u54cd\u5927\u8111\u7684\u53d1\u80b2\u4e0e\u529f\u80fd\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=\"2_ACADVL_%E6%9E%81%E9%95%BF%E9%93%BE%E9%85%B0%E5%9F%BA%E8%BE%85%E9%85%B6A%E8%84%B1%E6%B0%A2%E9%85%B6%E7%BC%BA%E4%B9%8F%E7%97%87%EF%BC%88Very_Long-Chain_Acyl-Coenzyme_A_Dehydrogenase_Deficiency_VLCAD%E7%BC%BA%E4%B9%8F%E7%97%87%EF%BC%89\"><\/span>[2_ACADVL] \u6781\u957f\u94fe\u9170\u57fa\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, VLCAD\u7f3a\u4e4f\u75c7\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>\u6781\u957f\u94fe\u9170\u57fa\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08VLCAD\u7f3a\u4e4f\u75c7\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5176\u7279\u5f81\u662f\u5728<strong>\u7ebf\u7c92\u4f53<\/strong>\u5185\u65e0\u6cd5\u6b63\u5e38\u5206\u89e3\u957f\u94fe\u8102\u80aa\u9178\u3002\u8fd9\u4e00\u5206\u89e3\u8fc7\u7a0b\u5bf9\u4e8e\u5728\u7981\u98df\u6216\u673a\u4f53\u80fd\u91cf\u9700\u6c42\u589e\u52a0\u7684\u60c5\u51b5\u4e0b\u751f\u6210\u80fd\u91cf\u81f3\u5173\u91cd\u8981\u3002\u8be5\u75be\u75c5\u7531<strong>ACADVL\u57fa\u56e0<\/strong>\u7684\u7a81\u53d8\u5f15\u8d77\uff0c\u8be5\u57fa\u56e0\u7f16\u7801\u8d1f\u8d23\u8102\u80aa\u9178\u03b2\u6c27\u5316\u521d\u59cb\u6b65\u9aa4\u7684\u9176\u3002\u5f53\u8be5\u9176\u7f3a\u9677\u5b58\u5728\u65f6\uff0c\u6709\u5bb3\u7684\u8102\u80aa\u9178\u4ee3\u8c22\u7269\u4f1a\u5728\u4f53\u5185\u79ef\u805a\uff0c\u53ef\u80fd\u635f\u4f24\u5fc3\u810f\u3001\u809d\u810f\u3001\u9aa8\u9abc\u808c\u7b49\u591a\u4e2a\u5668\u5b98\u3002<\/p>\n\n\n\n<p>\u6839\u636e\u4e25\u91cd\u7a0b\u5ea6\u548c\u53d1\u75c5\u5e74\u9f84\uff0cVLCAD\u7f3a\u4e4f\u75c7\u53ef\u4ee5\u5206\u4e3a\u4e09\u79cd\u4e3b\u8981\u7c7b\u578b\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65e9\u53d1\u578b\uff08\u5fc3\u810f\u548c\u591a\u5668\u5b98\u529f\u80fd\u8870\u7aed\u578b\uff09<\/strong><br>\u8fd9\u662f\u6700\u4e3a\u4e25\u91cd\u7684\u7c7b\u578b\uff0c\u901a\u5e38\u5728\u51fa\u751f\u540e\u7684\u6570\u4e2a\u6708\u5185\u53d1\u75c5\u3002\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u80a5\u539a\u578b\u6216\u6269\u5f20\u578b\u5fc3\u808c\u75c5\u3001\u5fc3\u5305\u79ef\u6db2\u3001\u5fc3\u5f8b\u5931\u5e38\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\uff08\u4f4e\u808c\u5f20\u529b\uff09\u3001\u809d\u80bf\u5927\uff08\u809d\u810f\u80bf\u5927\uff09\uff0c\u4ee5\u53ca\u65e0\u916e\u75c7\u4f4e\u8840\u7cd6\uff08\u4f4e\u916e\u6027\u4f4e\u8840\u7cd6\uff09\u3002<\/li>\n\n\n\n<li><strong>\u809d\u578b\uff08\u4f4e\u916e\u6027\u4f4e\u8840\u7cd6\u578b\uff09<\/strong><br>\u901a\u5e38\u5728\u5e7c\u513f\u671f\u53d1\u75c5\uff0c\u4e3b\u8981\u8868\u73b0\u4e3a\u4f4e\u8840\u7cd6\u548c\u809d\u80bf\u5927\uff0c\u4f46\u4e0d\u4f34\u6709\u5fc3\u808c\u75c5\u3002<\/li>\n\n\n\n<li><strong>\u665a\u53d1\u578b\uff08\u808c\u8089\u578b\uff09<\/strong><br>\u5728\u9752\u5c11\u5e74\u6216\u6210\u4eba\u671f\u53d1\u75c5\uff0c\u4e3b\u8981\u8868\u73b0\u4e3a\u8fd0\u52a8\u540e\u51fa\u73b0\u7684\u808c\u8089\u75bc\u75db\u3001\u75c9\u631b\u3001\u8fd0\u52a8\u8010\u529b\u4e0b\u964d\uff0c\u4ee5\u53ca\u7531\u8fd0\u52a8\u6216\u7981\u98df\u8bf1\u53d1\u7684\u6a2a\u7eb9\u808c\u6eb6\u89e3\u75c7\uff08\u808c\u8089\u7ec4\u7ec7\u5206\u89e3\uff09\u3002\u6b64\u7c7b\u578b\u7684\u60a3\u8005\u5728\u53d1\u4f5c\u671f\u95f4\u5f88\u5c11\u8868\u73b0\u51fa\u4f4e\u8840\u7cd6\u3002<\/li>\n<\/ol>\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>\u968f\u7740<strong>\u65b0\u751f\u513f\u7b5b\u67e5\uff08NBS\uff09<\/strong>\u7684\u666e\u53ca\uff0cVLCAD\u7f3a\u4e4f\u75c7\u7684\u65e9\u671f\u8bca\u65ad\u7387\u663e\u8457\u63d0\u9ad8\u3002\u8bb8\u591a\u60a3\u8005\u5728\u8bca\u65ad\u65f6\u65e0\u75c7\u72b6\uff0c\u65e9\u671f\u7ba1\u7406\u7684\u542f\u52a8\u53ef\u4ee5\u6709\u6548\u9884\u9632\u4e25\u91cd\u5e76\u53d1\u75c7\u5e76\u6539\u5584\u9884\u540e\u3002\u636e\u4f30\u8ba1\uff0cVLCAD\u7f3a\u4e4f\u75c7\u7684\u53d1\u75c5\u7387\u7ea6\u4e3a\u6bcf30,000\u81f3100,000\u4e2a\u65b0\u751f\u513f\u4e2d\u67091\u4f8b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>VLCAD\u7f3a\u4e4f\u75c7\u7684\u6cbb\u7597\u6838\u5fc3\u662f<strong>\u9884\u9632\u4ee3\u8c22\u5371\u8c61<\/strong>\u5e76<strong>\u7ba1\u7406\u75c7\u72b6<\/strong>\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e5\u5e38\u62a4\u7406<\/strong><br>\u65e5\u5e38\u62a4\u7406\u5305\u62ec\u91c7\u7528\u4f4e\u957f\u94fe\u8102\u80aa\u3001\u9ad8\u4e2d\u94fe\u8102\u80aa\u9178\uff08MCT\uff09\u7684\u7279\u6b8a\u996e\u98df\u65b9\u6848\u3002\u901a\u8fc7\u8fd9\u79cd\u996e\u98df\u8c03\u6574\uff0c\u53ef\u4ee5\u7ed5\u8fc7\u7f3a\u9677\u7684\u9176\u9014\u5f84\uff0c\u4e3a\u8eab\u4f53\u63d0\u4f9b\u66ff\u4ee3\u80fd\u6e90\u3002\u540c\u65f6\uff0c\u4e3a\u9632\u6b62\u7a7a\u8179\u5f15\u53d1\u75c7\u72b6\uff0c\u5c24\u5176\u5728\u5a74\u5e7c\u513f\u9636\u6bb5\uff0c\u63a8\u8350\u8fdb\u884c\u9891\u7e41\u8fdb\u98df\uff0c\u5e76\u5728\u591c\u95f4\u63d0\u4f9b\u542b\u590d\u6742\u78b3\u6c34\u5316\u5408\u7269\u7684\u52a0\u9910\u3002<br>\u6709\u65f6\u8fd8\u4f1a\u8865\u5145\u5de6\u65cb\u8089\u78b1\u3001\u6b27\u7c73\u4f3d\u8102\u80aa\u9178\u4ee5\u53ca\u7ef4\u751f\u7d20A\u3001D\u3001E\u7b49\u8425\u517b\u8865\u5145\u5242\u3002\u5bf9\u4e8e\u5bb9\u6613\u56e0\u8fc7\u5ea6\u8fd0\u52a8\u8bf1\u53d1\u75c7\u72b6\u7684\u60a3\u8005\uff0c\u8fd0\u52a8\u91cf\u7684\u79d1\u5b66\u7ba1\u7406\u5c24\u4e3a\u5173\u952e\u3002<\/li>\n\n\n\n<li><strong>\u6025\u8bca\u5904\u7406<\/strong><br>\u5728\u6025\u6027\u671f\uff0c\u9700\u901a\u8fc7\u9759\u8109\u8865\u5145\u8461\u8404\u7cd6\u548c\u6db2\u4f53\u7ef4\u6301\u8840\u7cd6\u6c34\u5e73\u7a33\u5b9a\uff0c\u5e76\u9632\u6b62\u6a2a\u7eb9\u808c\u6eb6\u89e3\u75c7\u3002\u5982\u679c\u5df2\u53d1\u751f\u6a2a\u7eb9\u808c\u6eb6\u89e3\u75c7\uff0c\u5e94\u7acb\u5373\u8fdb\u884c\u5145\u5206\u7684\u6db2\u4f53\u8865\u5145\u53ca\u5c3f\u6db2\u78b1\u5316\uff0c\u4ee5\u4fdd\u62a4\u80be\u529f\u80fd\u3002\u82e5\u60a3\u8005\u9700\u8981\u63a5\u53d7\u624b\u672f\uff0c\u5e94\u8fdb\u884c\u672f\u524d\u7684\u5468\u5bc6\u4ee3\u8c22\u7ba1\u7406\uff0c\u4ee5\u964d\u4f4e\u5e76\u53d1\u75c7\u98ce\u9669\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=\"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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%91%E6%B5%8B%E4%B8%8E%E9%9A%8F%E8%AE%BF\"><\/span><strong>\u76d1\u6d4b\u4e0e\u968f\u8bbf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6709\u6548\u7684\u7ba1\u7406\u4f9d\u8d56\u4e8e<strong>\u5b9a\u671f\u76d1\u6d4b<\/strong>\u3002\u4e3b\u8981\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u957f\u548c\u53d1\u80b2\u8fdb\u7a0b\u7684\u8bc4\u4f30<\/li>\n\n\n\n<li>\u8425\u517b\u72b6\u6001\u7684\u5b9a\u671f\u68c0\u67e5<\/li>\n\n\n\n<li>\u8840\u6db2\u68c0\u6d4b\u4ee5\u76d1\u6d4b\u4ee3\u8c22\u6807\u5fd7\u7269<\/li>\n\n\n\n<li>\u5fc3\u810f\u529f\u80fd\u8bc4\u4f30\uff0c\u5305\u62ec\u8d85\u58f0\u5fc3\u52a8\u56fe<\/li>\n\n\n\n<li>\u5bf9\u808c\u8089\u5065\u5eb7\u72b6\u6001\u7684\u5b9a\u671f\u76d1\u6d4b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%AD%A6%E4%B8%8E%E9%A3%8E%E9%99%A9\"><\/span><strong>\u9057\u4f20\u5b66\u4e0e\u98ce\u9669<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>VLCAD\u7f3a\u4e4f\u75c7\u9075\u5faa<strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u6a21\u5f0f<\/strong>\u3002\u8fd9\u610f\u5473\u7740\u5982\u679c\u7236\u6bcd\u53cc\u65b9\u90fd\u662fACADVL\u57fa\u56e0\u7a81\u53d8\u7684\u643a\u5e26\u8005\uff0c\u6bcf\u6b21\u6000\u5b55\u65f6\u5b69\u5b50\u60a3\u75c5\u7684\u6982\u7387\u4e3a25%\u3002\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u53ef\u4ee5\u8bc6\u522b\u643a\u5e26\u8005\uff0c\u5e76\u4e3a\u672a\u6765\u598a\u5a20\u63d0\u4f9b\u4ea7\u524d\u8bca\u65ad\u6216\u690d\u5165\u524d\u9057\u4f20\u5b66\u8bca\u65ad\u7684\u9009\u62e9\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5982\u679c\u8fdb\u884c\u6b63\u786e\u7684\u8bca\u65ad\u4e0e\u4e2a\u4f53\u5316\u7ba1\u7406\uff0c\u5373\u4f7f\u662f\u91cd\u75c7\u578b\u5a74\u513f\uff0c\u4e5f\u6709\u671b\u83b7\u5f97\u826f\u597d\u7684\u9884\u540e\u3002\u968f\u7740\u7b5b\u67e5\u6280\u672f\u3001\u996e\u98df\u7ba1\u7406\u4ee5\u53ca\u533b\u7597\u5e72\u9884\u7684\u8fdb\u6b65\uff0c\u8d8a\u6765\u8d8a\u591a\u7684\u60a3\u8005\u53ef\u4ee5\u4eab\u6709\u8f83\u5065\u5eb7\u7684\u751f\u6d3b\u3002\u7136\u800c\uff0c\u8be5\u75be\u75c5\u7684\u6709\u6548\u63a7\u5236\u4f9d\u8d56\u4e8e\u7ec8\u751f\u76d1\u6d4b\u548c\u4e2a\u4f53\u5316\u7684\u6cbb\u7597\u65b9\u6848\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%93_CHRNB1_%E5%85%88%E5%A4%A9%E6%80%A7%E8%82%8C%E6%97%A0%E5%8A%9B%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Congenital_Myasthenic_Syndrome_CMS%EF%BC%89\"><\/span>[\uff13_CHRNB1] \u5148\u5929\u6027\u808c\u65e0\u529b\u7efc\u5408\u5f81\uff08Congenital Myasthenic Syndrome, CMS\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\u808c\u65e0\u529b\u7efc\u5408\u5f81\uff08CMS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u4f1a\u5f71\u54cd\u795e\u7ecf\u4e0e\u808c\u8089\u4e4b\u95f4\u7684\u4fe1\u53f7\u4f20\u9012\uff0c\u4ece\u800c\u5f15\u8d77\u808c\u65e0\u529b\u3002\u8fd9\u79cd\u808c\u65e0\u529b\u901a\u5e38\u4f1a\u5728\u6d3b\u52a8\u8fc7\u7a0b\u4e2d\u52a0\u91cd\u3002\u75c7\u72b6\u591a\u5728\u51fa\u751f\u540e\u6216\u5e7c\u513f\u65e9\u671f\uff08\u4e3b\u8981\u57282\u5c81\u4ee5\u5185\uff09\u51fa\u73b0\uff0c\u4f46\u4e5f\u6709\u5c11\u6570\u75c5\u4f8b\u5728\u6210\u4eba\u671f\u53d1\u75c5\u3002CMS\u4e3b\u8981\u5f71\u54cd\u9aa8\u9abc\u808c\uff0c\u4e0d\u4f1a\u7d2f\u53ca\u5fc3\u808c\u548c\u5e73\u6ed1\u808c\u3002\u667a\u529b\u3001\u534f\u8c03\u6027\u3001\u611f\u89c9\u548c\u8171\u53cd\u5c04\u901a\u5e38\u4fdd\u6301\u6b63\u5e38\u3002\u7136\u800c\uff0c\u67d0\u4e9bCMS\u4e9a\u578b\u9664\u4e86\u808c\u65e0\u529b\uff0c\u8fd8\u4f1a\u8868\u73b0\u51fa\u66f4\u590d\u6742\u7684\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>CMS\u7684\u4e25\u91cd\u7a0b\u5ea6\u548c\u8fdb\u5c55\u5728\u4e0d\u540c\u4e9a\u578b\u4e4b\u95f4\u5dee\u5f02\u5f88\u5927\u3002\u6709\u7684\u4eba\u4ec5\u8868\u73b0\u4e3a\u8f7b\u5ea6\u7684\u8fd0\u52a8\u4e0d\u8010\u53d7\uff0c\u800c\u6709\u7684\u4eba\u5219\u4f1a\u51fa\u73b0\u663e\u8457\u7684\u808c\u65e0\u529b\uff0c\u751a\u81f3\u56e0\u53d1\u70ed\u3001\u611f\u67d3\u6216\u5e94\u6fc0\u800c\u7a81\u7136\u51fa\u73b0\u547c\u5438\u8870\u7aed\u3002\u5728\u65b0\u751f\u513f\u671f\uff0c\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u95f4\u6b47\u6027\u547c\u5438\u6682\u505c\u3001\u53d1\u7ec0\u3001\u5582\u517b\u56f0\u96be\u3001\u5438\u542e\u529b\u5f31\u3001\u54ed\u58f0\u5fae\u5f31\u4ee5\u53ca\u5168\u8eab\u6027\u808c\u65e0\u529b\u3002\u4e00\u4e9b\u75c5\u4f8b\u4e2d\uff0c\u7531\u4e8e\u80ce\u513f\u671f\u6d3b\u52a8\u4e0d\u8db3\uff0c\u8fd8\u4f1a\u51fa\u73b0\u5173\u8282\u631b\u7f29\uff08\u79f0\u4e3a\u5148\u5929\u6027\u5173\u8282\u631b\u7f29\u75c7\uff09\uff0c\u6216\u8868\u73b0\u4e3a\u7ec6\u957f\u7684\u9762\u5bb9\u3001\u72ed\u7a84\u7684\u4e0b\u988c\u3001\u9ad8\u62f1\u816d\u7b49\u7279\u5f81\u6027\u9762\u90e8\u5916\u8c8c\u3002\u5728\u5e7c\u513f\u671f\u4ee5\u540e\uff0c\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u4e0a\u7751\u4e0b\u5782\uff08\u773c\u76ae\u4e0b\u5782\uff09\u3001\u773c\u5916\u808c\u65e0\u529b\u3001\u9762\u90e8\u53ca\u54bd\u5589\u808c\u7fa4\u65e0\u529b\uff0c\u4ee5\u53ca\u541e\u54bd\u6216\u53d1\u58f0\u56f0\u96be\u3002<\/p>\n\n\n\n<p>\u4e00\u4e9b\u60a3\u8005\u4f1a\u51fa\u73b0\u79f0\u4e3a\u201c\u80a2\u5e26\u578b\u808c\u65e0\u529b\u201d\u7684\u7279\u5b9a\u8868\u73b0\uff0c\u4e3b\u8981\u5f71\u54cd\u8170\u90e8\u6216\u80a9\u90e8\u5468\u56f4\u7684\u808c\u8089\uff0c\u5bfc\u81f4\u6b65\u6001\u4e0d\u7a33\u6216\u4e0a\u4e0b\u697c\u68af\u56f0\u96be\u3002\u8fd9\u4e9b\u75c7\u72b6\u5728\u538b\u529b\u3001\u611f\u67d3\u6216\u53d1\u70ed\u671f\u95f4\u53ef\u80fd\u7a81\u7136\u52a0\u91cd\uff0c\u56e0\u6b64\u9700\u8981\u8c28\u614e\u7ba1\u7406\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><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<p>CMS\u7684\u6cbb\u7597\u9ad8\u5ea6\u4e2a\u4f53\u5316\uff0c\u9700\u6839\u636e\u60a3\u8005\u5177\u4f53\u60c5\u51b5\u53ca\u4e9a\u578b\u51b3\u5b9a\u3002\u57fa\u56e0\u68c0\u6d4b\u5728\u5236\u5b9a\u6cbb\u7597\u65b9\u6848\u4e2d\u81f3\u5173\u91cd\u8981\uff0c\u56e0\u4e3a\u4e0d\u540c\u4e9a\u578b\u5bf9\u836f\u7269\u53cd\u5e94\u5dee\u5f02\u660e\u663e\u3002\u5e38\u7528\u7684\u836f\u7269\u5305\u62ec\u5421\u5576\u65af\u7684\u660e\uff08\u4e59\u9170\u80c6\u78b1\u916f\u9176\u6291\u5236\u5242\uff09\uff0c\u7528\u4e8e\u6539\u5584\u795e\u7ecf\u4e0e\u808c\u8089\u4e4b\u95f4\u7684\u4fe1\u53f7\u4f20\u9012\uff0c\u4f46\u5e76\u975e\u6240\u6709\u4e9a\u578b\u90fd\u5bf9\u5176\u6709\u6548\uff0c\u90e8\u5206\u60c5\u51b5\u4e0b\u751a\u81f3\u4f1a\u52a0\u91cd\u75c7\u72b6\u3002\u5176\u4ed6\u9009\u62e9\u5305\u62ec3,4-\u4e8c\u6c28\u57fa\u5421\u5576\uff083,4-DAP\uff0c\u53ef\u589e\u52a0\u795e\u7ecf\u9012\u8d28\u91ca\u653e\uff09\u4ee5\u53ca\u9ebb\u9ec4\u78b1\u6216\u6c99\u4e01\u80fa\u9187\uff08\u5728\u90e8\u5206\u7279\u5b9a\u4e9a\u578b\u4e2d\u6709\u6548\uff09\u3002\u836f\u7269\u526f\u4f5c\u7528\u9700\u8981\u4e25\u5bc6\u76d1\u6d4b\uff0c\u5e76\u6839\u636e\u4e2a\u4f53\u53cd\u5e94\u8c03\u6574\u5242\u91cf\u3002\u5bf9\u4e8e<strong>CHRNB1\u76f8\u5173\u7684CMS<\/strong>\uff0c\u6c1f\u897f\u6c40\u3001\u594e\u5c3c\u4e01\u548c\u5421\u5576\u65af\u7684\u660e\u88ab\u63a8\u8350\u4f5c\u4e3a\u4e00\u7ebf\u7528\u836f\uff0c\u6c99\u4e01\u80fa\u9187\u6216\u9ebb\u9ec4\u78b1\u53ef\u4f5c\u4e3a\u8f85\u52a9\u6cbb\u7597\u3002\u5728\u5f00\u59cb\u4efb\u4f55\u836f\u7269\u6cbb\u7597\u524d\uff0c\u52a1\u5fc5\u54a8\u8be2\u4e13\u4e1a\u533b\u751f\u3002<\/p>\n\n\n\n<p>\u9664\u4e86\u836f\u7269\u6cbb\u7597\uff0cCMS\u7684\u7ba1\u7406\u8fd8\u5e94\u5305\u62ec\u591a\u5b66\u79d1\u652f\u6301\uff0c\u4ee5\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u3002\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u53ca\u8bed\u8a00\u6cbb\u7597\u5747\u6709\u5e2e\u52a9\uff1b\u5728\u75c5\u60c5\u8f83\u91cd\u7684\u60a3\u8005\u4e2d\uff0c\u53ef\u80fd\u9700\u8981\u8f6e\u6905\u3001\u77eb\u5f62\u652f\u5177\u6216\u547c\u5438\u8f85\u52a9\u88c5\u7f6e\u3002\u82e5\u5b58\u5728\u660e\u663e\u7684\u8fdb\u98df\u56f0\u96be\uff0c\u53ef\u80fd\u9700\u8981\u80c3\u9020\u53e3\u3002\u5bf9\u4e8e\u5a74\u5e7c\u513f\uff0c\u5efa\u8bae\u7236\u6bcd\u914d\u5907\u547c\u5438\u6682\u505c\u76d1\u6d4b\u5668\uff0c\u5e76\u63a5\u53d7\u5fc3\u80ba\u590d\u82cf\u672f\uff08CPR\uff09\u57f9\u8bad\uff0c\u4ee5\u5e94\u5bf9\u7a81\u53d1\u7684\u547c\u5438\u5371\u673a\u3002<\/p>\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<p><strong>\u968f\u8bbf\u4e0e\u76d1\u6d4b<\/strong><\/p>\n\n\n\n<p>\u808c\u529b\u3001\u547c\u5438\u529f\u80fd\u4ee5\u53ca\u6574\u4f53\u5065\u5eb7\u72b6\u51b5\u9700\u8981\u5b9a\u671f\u968f\u8bbf\u3002\u901a\u5e38\u513f\u7ae5\u6bcf6\u4e2a\u6708\u590d\u67e5\u4e00\u6b21\uff0c\u6210\u5e74\u4eba\u6bcf\u5e74\u590d\u67e5\u4e00\u6b21\u3002\u5b55\u671f\u60a3\u8005\u5e94\u4e0e\u4e13\u79d1\u533b\u751f\u5bc6\u5207\u5408\u4f5c\uff0c\u76d1\u6d4b\u547c\u5438\u53ca\u5fc3\u810f\u529f\u80fd\u3002<\/p>\n\n\n\n<p><strong>\u5176\u4ed6\u6ce8\u610f\u4e8b\u9879<\/strong><\/p>\n\n\n\n<p>\u7531\u4e8eCMS\u5e76\u975e\u7531\u514d\u75ab\u53cd\u5e94\u5f15\u8d77\uff0c\u514d\u75ab\u6291\u5236\u6cbb\u7597\u65e0\u6548\u3002\u7136\u800c\uff0c\u5927\u591a\u6570CMS\u4e9a\u578b\u5bf9\u67d0\u4e9b\u836f\u7269\u6cbb\u7597\u6709\u4e00\u5b9a\u53cd\u5e94\uff0c\u4f46\u6548\u679c\u56e0\u4e9a\u578b\u4e0d\u540c\u800c\u663e\u8457\u5dee\u5f02\u3002\u67d0\u4e9b\u836f\u7269\u5728\u7279\u5b9a\u4e9a\u578b\u4e2d\u6709\u6548\uff0c\u4f46\u5728\u5176\u4ed6\u4e9a\u578b\u4e2d\u53ef\u80fd\u5f15\u53d1\u4e0d\u826f\u53cd\u5e94\u3002\u56e0\u6b64\uff0c\u7cbe\u786e\u8bca\u65ad\u5e76\u5236\u5b9a\u4e2a\u4f53\u5316\u6cbb\u7597\u65b9\u6848\u81f3\u5173\u91cd\u8981\u3002\u5728\u79d1\u5b66\u7ba1\u7406\u548c\u89c4\u5f8b\u76d1\u6d4b\u4e0b\uff0cCMS\u60a3\u8005\u80fd\u591f\u6709\u6548\u63a7\u5236\u75c7\u72b6\uff0c\u663e\u8457\u6539\u5584\u751f\u6d3b\u8d28\u91cf\u3002<\/p>\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%93%BE%E9%99%84%E5%8A%A0%E4%B8%8E%E5%A4%9A%E9%80%9A%E8%B7%AF%E7%9A%84%E5%85%88%E5%A4%A9%E6%80%A7%E7%96%BE%E7%97%85%EF%BC%88Congenital_Disorders_of_N-Linked_Glycosylation_and_Multiple_Pathways%EF%BC%89\"><\/span>[\uff14_MPDU1]\u3000N\u578b\u7cd6\u94fe\u9644\u52a0\u4e0e\u591a\u901a\u8def\u7684\u5148\u5929\u6027\u75be\u75c5\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\u94fe\u578b\u5148\u5929\u6027\u7cd6\u57fa\u5316\u5f02\u5e38\u75c7\u4ee5\u53ca\u591a\u901a\u8def\u5f02\u5e38\u75c7\uff08\u7edf\u79f0\u4e3a\u5148\u5929\u6027\u7cd6\u57fa\u5316\u969c\u788d\uff0cCongenital Disorders of Glycosylation, CDG\uff09\u662f\u4e00\u7ec4\u7531\u7cd6\u57fa\u5316\u4fee\u9970\u8fc7\u7a0b\u5f02\u5e38\u5bfc\u81f4\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\u3002\u7cd6\u57fa\u5316\u662f\u6307\u7cd6\u5206\u5b50\u88ab\u9644\u7740\u5230\u86cb\u767d\u8d28\u6216\u8102\u8d28\u4e0a\u7684\u8fc7\u7a0b\uff0c\u5bf9\u7ec6\u80de\u529f\u80fd\u6781\u5176\u91cd\u8981\uff0c\u5176\u5f02\u5e38\u4f1a\u5f71\u54cd\u591a\u5668\u5b98\uff0c\u9020\u6210\u591a\u6837\u5316\u7684\u4e34\u5e8a\u75c7\u72b6\u3002<br>CDG\u901a\u5e38\u5728\u5a74\u513f\u671f\u8d77\u75c5\uff0c\u5178\u578b\u8868\u73b0\u5305\u62ec\u751f\u957f\u4e0d\u826f\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u809d\u810f\u5f02\u5e38\uff0c\u4ee5\u53ca\u795e\u7ecf\u7cfb\u7edf\u95ee\u9898\u5982\u766b\u75eb\u3002\u8fd8\u5e38\u89c1\u773c\u90e8\u5f02\u5e38\u3001\u76ae\u80a4\u95ee\u9898\u5982\u9c7c\u9cde\u75c5\u548c\u514d\u75ab\u529f\u80fd\u969c\u788d\u3002\u4e9a\u578b\u4e4b\u4e00\u7684MPDU1-CDG\uff08\u53c8\u79f0CDG-If\uff09\u7531\u53c2\u4e0e\u7cd6\u5206\u5b50\u8de8\u819c\u8f6c\u8fd0\u7684MPDU1\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\uff0c\u8be5\u8fc7\u7a0b\u662f\u7cd6\u57fa\u5316\u4e2d\u7684\u5173\u952e\u6b65\u9aa4\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\u662fCDG\u4e2d\u6781\u4e3a\u7f55\u89c1\u7684\u4e00\u578b\u3002CDG\u5c5e\u4e8e\u591a\u7cfb\u7edf\u6027\u9057\u4f20\u75c5\u7fa4\uff0c\u7531\u7cd6\u86cb\u767d\u5408\u6210\u8fc7\u7a0b\u7684\u7f3a\u9677\u5f15\u53d1\u3002\u8fd9\u4e9b\u7f3a\u9677\u5bfc\u81f4\u8840\u6e05\u7cd6\u86cb\u767d\u7cd6\u57fa\u5316\u4e0d\u8db3\uff0c\u4ece\u800c\u635f\u5bb3\u5bf9\u80da\u80ce\u53d1\u751f\u3001\u7ec6\u80de\u5206\u5316\u53ca\u7ec6\u80de\u529f\u80fd\u7ef4\u6301\u81f3\u5173\u91cd\u8981\u7684N\u578b\u7cd6\u86cb\u767d\u4f5c\u7528\uff0c\u8fdb\u800c\u5f15\u53d1\u5168\u8eab\u6027\u5f71\u54cd\uff0c\u4ea7\u751f\u591a\u5f69\u800c\u590d\u6742\u7684\u4e34\u5e8a\u8868\u73b0\u3002<br>MPDU1-CDG\u7531MPDU1\u57fa\u56e0\u53d8\u5f02\u5bfc\u81f4\u3002\u8be5\u57fa\u56e0\u5728\u7ec6\u80de\u5185\u8d1f\u8d23\u7279\u5b9a\u7cd6\u5206\u5b50\u7684\u8f6c\u8fd0\uff0c\u662f\u7cd6\u57fa\u5316\u5173\u952e\u6b65\u9aa4\u4e4b\u4e00\u3002\u8be5\u529f\u80fd\u53d7\u635f\u4f1a\u4f7f\u6b63\u786e\u7cd6\u57fa\u5316\u7684\u86cb\u767d\u548c\u8102\u8d28\u65e0\u6cd5\u751f\u6210\uff0c\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u766b\u75eb\u3001\u5e72\u71e5\u6216\u53d1\u7ea2\u7684\u76ae\u80a4\u6539\u53d8\uff08\u5982\u9c7c\u9cde\u6837\u6539\u53d8\uff09\uff0c\u4ee5\u53ca\u9762\u90e8\u7279\u5f81\u5f02\u5e38\u7b49\u3002\u6709\u4e9b\u60a3\u513f\u8fd8\u4f1a\u51fa\u73b0\u547c\u5438\u6682\u505c\uff0c\u56e0\u6b64\u547c\u5438\u7ba1\u7406\u5341\u5206\u91cd\u8981\u3002<\/p>\n\n\n\n<p>MPDU1-CDG\u7684\u4e25\u91cd\u7a0b\u5ea6\u548c\u8fdb\u5c55\u5dee\u5f02\u5f88\u5927\uff0c\u53d6\u51b3\u4e8e\u4e2a\u4f53\u4e0e\u53d8\u5f02\u7c7b\u578b\u3002\u5e38\u89c1\u5168\u8eab\u6027\u95ee\u9898\u5305\u62ec\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u843d\u540e\u3001\u795e\u7ecf\u5b66\u969c\u788d\u3001\u51dd\u8840\u5f02\u5e38\u3001\u514d\u75ab\u7f3a\u9677\u548c\u76ae\u80a4\u5f02\u5e38\u7b49\u3002\u7cd6\u57fa\u5316\u5f02\u5e38\u53ef\u5bf9\u795e\u7ecf\u3001\u9aa8\u9abc\u3001\u514d\u75ab\u7b49\u591a\u4e2a\u7cfb\u7edf\u4ea7\u751f\u590d\u6742\u5f71\u54cd<\/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\u7597\u4ee5\u5bf9\u75c7\u652f\u6301\u4e3a\u4e3b\u3002\u7279\u522b\u662f\u5a74\u5e7c\u513f\u671f\u7684\u8425\u517b\u7ba1\u7406\u81f3\u5173\u91cd\u8981\uff0c\u82e5\u5b58\u5728\u5582\u517b\u56f0\u96be\u6216\u751f\u957f\u969c\u788d\uff0c\u53ef\u9700\u8981\u7279\u6b8a\u914d\u65b9\u5976\u3001\u8425\u517b\u8865\u5145\u6216\u7ba1\u9972\u3002\u82e5\u56e0\u53e3\u8154\u8fd0\u52a8\u969c\u788d\u5bfc\u81f4\u5455\u5410\uff0c\u53ef\u901a\u8fc7\u589e\u7a20\u996e\u98df\u6216\u5236\u9178\u5242\u52a0\u4ee5\u5904\u7406\u3002\u7ed3\u5408\u8a00\u8bed\u3001\u7269\u7406\u4e0e\u4f5c\u4e1a\u6cbb\u7597\u6709\u52a9\u4e8e\u6539\u5584\u53d1\u80b2\u8fdf\u7f13\u4e0e\u8fd0\u52a8\u529f\u80fd\u3002<br>\u7531\u4e8e\u773c\u90e8\u5f02\u5e38\u5e38\u89c1\uff0c\u5e94\u65e9\u671f\u5c31\u8bca\u773c\u79d1\u4ee5\u4fdd\u62a4\u89c6\u529b\u3002\u80be\u4e0e\u7532\u72b6\u817a\u529f\u80fd\u4ea6\u53ef\u80fd\u53d7\u7d2f\uff0c\u5efa\u8bae\u5b9a\u671f\u80be\u810f\u8d85\u58f0\u4e0e\u5c3f\u68c0\u4ee5\u65e9\u671f\u53d1\u73b0\u80be\u75c5\u7efc\u5408\u5f81\u6216\u86cb\u767d\u5c3f\u3002\u672f\u524d\u9700\u8bc4\u4f30\u6f5c\u5728\u7684\u51dd\u8840\u5f02\u5e38\uff0c\u5fc5\u8981\u65f6\u7ed9\u4e88\u8840\u5236\u54c1\u6216\u8840\u6d46\u8f93\u6ce8\u3002<br>\u6025\u6027\u671f\u5982\u5352\u4e2d\u6837\u53d1\u4f5c\u6216\u4e25\u91cd\u611f\u67d3\u65f6\uff0c\u5e94\u8fc5\u901f\u7ed9\u4e88\u9759\u8109\u8f93\u6db2\u4e0e\u8840\u7cd6\u7ba1\u7406\u7b49\u652f\u6301\u3002\u5bf9\u5a74\u5e7c\u513f\uff0c\u547c\u5438\u6682\u505c\u7ba1\u7406\u5c24\u5176\u5173\u952e\uff0c\u5efa\u8bae\u76d1\u62a4\u4eba\u63a5\u53d7\u547c\u5438\u6025\u6551\u7684\u8bad\u7ec3\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>\u786e\u8bca\u4f9d\u8d56\u57fa\u56e0\u68c0\u6d4b\uff0c\u5e76\u6709\u52a9\u4e8e\u4e0e\u5176\u4ed6CDG\u4e9a\u578b\u9274\u522b\u3002\u65e9\u671f\u8bca\u65ad\u53ef\u5b9e\u73b0\u66f4\u6070\u5f53\u7684\u5e72\u9884\uff0c\u6539\u5584\u9884\u540e\u4e0e\u751f\u6d3b\u8d28\u91cf\u3002\u7531\u4e8e\u75be\u75c5\u7f55\u89c1\uff0c\u957f\u671f\u6570\u636e\u6709\u9650\uff0c\u4f46\u5df2\u6709\u75c5\u4f8b\u5728\u7efc\u5408\u7167\u62a4\u4e0b\u5b58\u6d3b\u81f3\u9752\u6625\u671f\u3002<br>MPDU1-CDG\u7684\u6cbb\u7597\u9700\u591a\u5b66\u79d1\u5408\u4f5c\uff0c\u5305\u62ec\u795e\u7ecf\u3001\u6d88\u5316\u3001\u773c\u79d1\u3001\u8840\u6db2\u79d1\u4e0e\u514d\u75ab\u79d1\u7b49\u5171\u540c\u7ba1\u7406\uff0c\u4ee5\u5e94\u5bf9\u75be\u75c5\u5e26\u6765\u7684\u591a\u91cd\u6311\u6218\uff0c\u63d0\u5347\u6574\u4f53\u7597\u6548\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%80Wilms%E8%82%BF%E7%98%A4%E6%98%93%E6%84%9F%E7%BB%BC%E5%90%88%E5%BE%81%E3%80%81Li-Fraumeni%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Wilms_Tumor_Predisposition_Li-Fraumeni_Syndrome%EF%BC%89\"><\/span>[\uff15_TP53]\u3000Wilms\u80bf\u7624\u6613\u611f\u7efc\u5408\u5f81\u3001Li-Fraumeni\u7efc\u5408\u5f81\uff08Wilms Tumor Predisposition; Li-Fraumeni 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>Li-Fraumeni\u7efc\u5408\u5f81\uff08LFS\uff09\u662f\u4e00\u79cd\u663e\u8457\u63d0\u9ad8\u9752\u5c11\u5e74\u671f\u53d1\u764c\u98ce\u9669\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5448\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u56e0\u6b64\u60a3\u8005\u5c06\u53d8\u5f02\u4f20\u9012\u7ed9\u5b50\u4ee3\u7684\u6982\u7387\u4e3a50%\u3002LFS\u4e3b\u8981\u4e0eTP53\u57fa\u56e0\u7684\u751f\u6b96\u7cfb\u53d8\u5f02\u76f8\u5173\u3002TP53\u5bf9\u7ec6\u80de\u5206\u88c2\u8c03\u63a7\u4e0e\u6291\u764c\u81f3\u5173\u91cd\u8981\u3002<br>LFS\u7684\u7279\u5f81\u5e38\u89c1\u4e8e\u5bb6\u65cf\u5185\u591a\u53d1\u80bf\u7624\u3002\u7ecf\u5178\u8bca\u65ad\u6807\u51c6\u5305\u62ec\uff1a45\u5c81\u524d\u7684\u8089\u7624\u60a3\u8005\uff08\u6307\u793a\u75c5\u4f8b\uff09\uff0c\u5176\u4e00\u7ea7\u4eb2\u5c5e\u4e2d\u6709\u4eba\u572845\u5c81\u524d\u7f79\u60a3\u4efb\u4e00\u764c\u75c7\uff0c\u4e14\u540c\u4e00\u6216\u53e6\u4e00\u4f4d\u8fd1\u4eb2\u4e2d\u670945\u5c81\u524d\u80bf\u7624\u6216\u4efb\u4f55\u5e74\u9f84\u7684\u8089\u7624\u75c5\u4f8b\u3002\u672a\u5b8c\u5168\u7b26\u5408\u6807\u51c6\u4f46\u9ad8\u5ea6\u53ef\u7591\u8005\u79f0\u4e3aLi-Fraumeni\u6837\u7efc\u5408\u5f81\uff08LFL\uff09\u3002\u4e0eLFS\u9ad8\u5ea6\u76f8\u5173\u7684\u80bf\u7624\u5305\u62ec\u4e73\u817a\u764c\u3001\u8f6f\u7ec4\u7ec7\u4e0e\u9aa8\u8089\u7624\u3001\u8111\u80bf\u7624\uff08\u5982\u661f\u5f62\u7ec6\u80de\u7624\uff09\u4e0e\u80be\u4e0a\u817a\u76ae\u8d28\u764c\uff0c\u8fd9\u4e9b\u7ea6\u5360TP53\u53d8\u5f02\u8005\u80bf\u7624\u768480%\u3002\u6b64\u5916\u8fd8\u89c1\u767d\u8840\u75c5\u3001\u7ed3\u76f4\u80a0\u764c\u3001\u80c3\u764c\u3001Wilms\u80bf\u7624\u3001\u6076\u6027\u53f6\u72b6\u80bf\u7624\u3001\u8109\u7edc\u4e1b\u4e73\u5934\u72b6\u7624\u7b49\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>Wilms\u80bf\u7624\u662f\u4e3b\u8981\u53d1\u751f\u4e8e\u513f\u7ae5\u7684\u80be\u764c\uff0c\u4e3aLFS\u76f8\u5173\u80bf\u7624\u4e4b\u4e00\u3002\u5e38\u4ee5\u770b\u4f3c\u5065\u5eb7\u513f\u7ae5\u7684\u8179\u90e8\u5305\u5757\u8d77\u75c5\uff0c\u53ef\u80fd\u4f34\u8179\u75db\u3001\u53d1\u70ed\u3001\u8d2b\u8840\u3001\u8840\u5c3f\u4e0e\u9ad8\u8840\u538b\u3002\u7ea65%\u81f310%\u4e3a\u53cc\u4fa7\u6216\u591a\u53d1\u6027\uff0c\u9057\u4f20\u7d20\u56e0\u5982LFS\u4f1a\u63d0\u9ad8\u53d1\u751f\u7387\u3002\u8bca\u65ad\u9700\u7ec4\u7ec7\u5b66\u5206\u6790\uff0c\u5206\u826f\u597d\u4e0e\u9000\u884c\u578b\u4e24\u7c7b\u3002\u9000\u884c\u578b\u5e38\u4f34\u4f53\u7ec6\u80deTP53\u53d8\u5f02\uff0c\u9884\u540e\u8f83\u5dee\u3002\u6cbb\u7597\u5305\u62ec\u624b\u672f\u3001\u5316\u7597\uff0c\u5fc5\u8981\u65f6\u653e\u7597\u3002\u5c3d\u7ba1\u603b\u4f53\u751f\u5b58\u7387\u8d85\u8fc790%\uff0c\u9000\u884c\u578b\u6216\u8fdc\u5904\u8f6c\u79fb\u8005\u9884\u540e\u8f83\u5dee\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>LFS\u7684\u80bf\u7624\u98ce\u9669\u968f\u5e74\u9f84\u800c\u53d8\u3002\u513f\u7ae5\u671f\u5e38\u89c1\u80be\u4e0a\u817a\u76ae\u8d28\u764c\u3001\u6a2a\u7eb9\u808c\u8089\u7624\u4e0e\u8111\u80bf\u7624\uff0c\u9752\u5c11\u5e74\u4e0e\u5e74\u8f7b\u6210\u4eba\u671f\u4ee5\u4e73\u817a\u764c\u3001\u8089\u7624\u4e0e\u8111\u80bf\u7624\u4e3a\u4e3b\uff0c\u6210\u5e74\u540e\u671f\u80f0\u817a\u764c\u4e0e\u524d\u5217\u817a\u764c\u98ce\u9669\u4e0a\u5347\u3002\u7ec8\u751f\u53d1\u764c\u98ce\u9669\u5973\u6027\u7ea690%\uff0c\u7537\u6027\u7ea670%\uff0c\u7ea6\u534a\u6570\u572840\u5c81\u524d\u53d1\u75c5\u3002\u53d7\u6cbb\u7597\u5f71\u54cd\u4e0e\u9057\u4f20\u7d20\u56e0\uff0c\u4e8c\u6b21\u80bf\u7624\u98ce\u9669\u4ea6\u5347\u9ad8\u3002<br>\u7ba1\u7406\u5305\u62ec\u9884\u9632\u3001\u76d1\u6d4b\u4e0e\u6cbb\u7597\u3002\u5973\u6027\u53ef\u8003\u8651\u9884\u9632\u6027\u4e73\u817a\u5207\u9664\u4ee5\u964d\u4f4e\u98ce\u9669\u3002\u76d1\u6d4b\u5efa\u8bae\u9891\u7e41\u7684\u4f53\u68c0\u3001\u5168\u8eabMRI\u53ca\u7ed3\u5408\u5bb6\u65cf\u53f2\u4e0e\u5e74\u9f84\u7684\u5668\u5b98\u7279\u5f02\u6027\u7b5b\u67e5\u3002\u653e\u7597\u4f1a\u63d0\u9ad8\u4e8c\u6b21\u764c\u98ce\u9669\uff0c\u5e94\u5c3d\u91cf\u907f\u514d\u3002\u9057\u4f20\u54a8\u8be2\u5bf9\u53d7\u7d2f\u5bb6\u65cf\u5341\u5206\u91cd\u8981\uff0cTP53\u68c0\u6d4b\u53ef\u8bc6\u522b\u643a\u5e26\u8005\u5e76\u5b9e\u73b0\u65e9\u671f\u5e72\u9884\u3002<br>\u598a\u5a20\u671f\u5973\u6027\u9700\u8c28\u614e\u76d1\u6d4b\u80bf\u7624\u8ff9\u8c61\u3002\u867d\u5bf9TP53\u53d8\u5f02\u80ce\u513f\u65e0\u7279\u5b9a\u4ea7\u524d\u76d1\u6d4b\u5efa\u8bae\uff0c\u4f46\u5efa\u8bae\u51fa\u751f\u540e\u5373\u5f00\u59cb\u7b5b\u67e5\u3002\u7f55\u89c1\u5e76\u53d1\u75c7\u5305\u62ec\u598a\u5a20\u6027\u7ed2\u6bdb\u764c\u3002<br>LFS\u51f8\u663e\u4e2a\u4f53\u5316\u533b\u7597\u4e0e\u79ef\u6781\u7ba1\u7406\u7684\u91cd\u8981\u6027\uff0c\u4ee5\u6539\u5584\u60a3\u8005\u4e0e\u5bb6\u65cf\u7684\u9884\u540e\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%E5%85%88%E5%A4%A9%E6%80%A7%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%E5%8F%8A%E7%9B%B8%E5%85%B3%E7%AB%AF%E7%B2%92%E7%94%9F%E7%89%A9%E5%AD%A6%E7%96%BE%E7%97%85%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\"><\/span>[\uff16_WRAP53]\u3000\u5148\u5929\u6027\u53d1\u80b2\u4e0d\u826f\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5\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>Dyskeratosis Congenita\uff08DC\uff09\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u969c\u788d\uff08TBD\uff09\u662f\u4e00\u7ec4\u7531\u4e8e\u7aef\u7c92\u7ef4\u6301\u5f02\u5e38\u800c\u81f4\u7684\u6781\u7f55\u89c1\u9057\u4f20\u75c5\u3002\u7aef\u7c92\u4fdd\u62a4\u67d3\u8272\u4f53\u672b\u7aef\uff0c\u5bf9\u57fa\u56e0\u7a33\u5b9a\u6027\u4e0e\u7ec6\u80de\u5bff\u547d\u81f3\u5173\u91cd\u8981\u3002\u591a\u79cd\u57fa\u56e0\u53d8\u5f02\uff0c\u5c24\u5176\u662fWRAP53\uff0c\u4f1a\u7834\u574f\u6b64\u8fc7\u7a0b\u5e76\u5f15\u53d1\u591a\u6837\u4e34\u5e8a\u8868\u73b0\u4e0e\u5e76\u53d1\u75c7\u3002<br>WRAP53\u4f4d\u4e8e\u67d3\u8272\u4f5317p13\uff0c\u7f16\u7801\u7aef\u7c92\u9176Cajal\u5c0f\u4f53\u86cb\u767d1\uff08TCAB1\uff09\u3002\u8be5\u86cb\u767d\u5728\u7aef\u7c92\u5408\u6210\u3001DNA\u4fee\u590d\u4e0e\u6291\u764c\u86cb\u767dp53\u7684\u8c03\u8282\u4e2d\u53d1\u6325\u8981\u5f79\u3002p53\u901a\u8def\u5bf9\u4e8e\u7ec6\u80de\u5468\u671f\u4e0eDNA\u635f\u4f24\u5e94\u7b54\u4e0d\u53ef\u6216\u7f3a\u3002WRAP53\u53d8\u5f02\u5bfc\u81f4\u7aef\u7c92\u7ef4\u6301\u7f3a\u9677\uff0c\u53ef\u5f15\u8d77\u5e38\u67d3\u8272\u4f53\u9690\u6027\u578b\u7684DC\u4e9a\u578b\uff08DKCB3\uff09\uff0c\u663e\u793a\u7aef\u7c92\u7ef4\u6301\u5f02\u5e38\u5bf9\u591a\u4e2a\u5668\u5b98\u7cfb\u7edf\u7684\u5e7f\u6cdb\u5f71\u54cd\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\u4e34\u5e8a\u8868\u73b0\u9ad8\u5ea6\u5f02\u8d28\u3002DC\u7684\u7ecf\u5178\u4e09\u8054\u5f81\u4e3a\u80f8\u9888\u90e8\u7f51\u72b6\u8272\u7d20\u6c89\u7740\u3001\u6307\u7532\u53d1\u80b2\u4e0d\u826f\u3001\u53e3\u8154\u767d\u6591\uff0c\u4f46\u5e76\u975e\u4eba\u4eba\u5177\u5907\uff0c\u4e2a\u4f53\u5dee\u5f02\u5f88\u5927\u3002\u53ef\u89c1\u8fdb\u884c\u6027\u9aa8\u9ad3\u8870\u7aed\u3001\u9aa8\u9ad3\u589e\u751f\u5f02\u5e38\u7efc\u5408\u5f81\u3001\u6025\u6027\u767d\u8840\u75c5\u3001\u9cde\u764c\uff08\u5c24\u4ee5\u5934\u9888\u90e8\u4e0e\u809b\u751f\u6b96\u90e8\u4f4d\uff09\u3001\u80ba\u7ea4\u7ef4\u5316\u4e0e\u809d\u75c5\u7b49\u3002\u5176\u4ed6\u8fd8\u5305\u62ec\u6d41\u6cea\u3001\u773c\u7751\u5185\u5916\u7ffb\u3001\u725b\u7259\u6837\u6839\u5f62\u6001\uff08taurodontism\uff09\u3001\u80c3\u80a0\u6bdb\u7ec6\u8840\u7ba1\u6269\u5f20\u3001\u80a1\u9aa8\u6216\u80a9\u90e8\u7f3a\u8840\u6027\u574f\u6b7b\u3002\u65e9\u53d1\u767d\u53d1\u3001\u9aa8\u8d28\u758f\u677e\u3001\u518d\u969c\u4ea6\u5e38\u89c1\uff0c\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\u3002\u591a\u57285\u81f310\u5c81\u8d77\u75c5\uff0c\u5e38\u56e0\u9aa8\u9ad3\u8870\u7aed\u3001\u611f\u67d3\u3001\u80ba\u5e76\u53d1\u75c7\u6216\u6076\u6027\u80bf\u7624\u800c\u65e9\u901d\u3002<br>DKCB3\u4e3aDC\u7684\u4e00\u578b\uff0c\u9057\u4f20\u65b9\u5f0f\u4e3a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u3002\u6574\u4f53\u4e0aDC\u53ef\u5448X\u8fde\u9501\u9690\u6027\u3001\u5e38\u67d3\u8272\u4f53\u663e\u6027\u6216\u9690\u6027\u9057\u4f20\u3002\u75be\u75c5\u591a\u89c1\u4e8e\u7537\u6027\uff0c\u4f46\u5404\u65cf\u7fa4\u5747\u6709\u62a5\u9053\u3002\u6839\u672c\u539f\u56e0\u662f\u7aef\u7c92\u7ef4\u6301\u5f02\u5e38\uff0c\u6291\u5236\u4e0a\u76ae\u4e0e\u9020\u8840\u7ec6\u80de\u589e\u6b96\uff0c\u5bfc\u81f4\u7ec6\u80de\u8870\u8001\u3002\u8272\u7d20\u5f02\u5e38\u88ab\u8ba4\u4e3a\u4e0e\u8001\u5316\u9ed1\u8272\u7d20\u7ec6\u80de\u4e2d\u9ed1\u8272\u7d20\u5408\u6210\u589e\u52a0\u76f8\u5173\u3002\u591a\u6570\u60a3\u8005\u8fd0\u52a8\u53d1\u80b2\u4e0e\u795e\u7ecf\u529f\u80fd\u6b63\u5e38\uff0c\u4f46\u90e8\u5206\u53ef\u89c1\u53d1\u80b2\u8fdf\u7f13\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\u6cbb\u7597\u590d\u6742\u4e14\u9700\u4e2a\u4f53\u5316\u3002\u9020\u8840\u5e72\u7ec6\u80de\u79fb\u690d\u662f\u9aa8\u9ad3\u8870\u7aed\u6216\u767d\u8840\u75c5\u7684\u552f\u4e00\u6839\u6cbb\u6cbb\u7597\uff0c\u4f46\u957f\u671f\u6bd2\u6027\u98ce\u9669\u9ad8\u3002\u65e0\u5408\u9002\u4f9b\u8005\u65f6\uff0c\u53ef\u8003\u8651\u96c4\u6fc0\u7d20\u6cbb\u7597\u4ee5\u6539\u5584\u9aa8\u9ad3\u529f\u80fd\u3002\u5176\u4ed6\u5e76\u53d1\u75c7\u5982\u6076\u6027\u80bf\u7624\u4e0e\u80ba\u7ea4\u7ef4\u5316\u9700\u5bf9\u75c7\u5904\u7406\uff0c\u91cd\u5ea6\u80ba\u7ea4\u7ef4\u5316\u65f6\u53ef\u9700\u80ba\u79fb\u690d\u3002\u80bf\u7624\u6cbb\u7597\u589e\u52a0\u957f\u671f\u8840\u7ec6\u80de\u51cf\u5c11\u4e0e\u5668\u5b98\u6bd2\u6027\u98ce\u9669\u3002<br>\u968f\u8bbf\u7ba1\u7406\u81f3\u5173\u91cd\u8981\uff0c\u5efa\u8bae\u6bcf\u5e74\u8840\u7ec6\u80de\u8ba1\u6570\u4e0e\u9aa8\u9ad3\u68c0\u67e5\u3001\u80bf\u7624\u7b5b\u67e5\u3001\u80ba\u529f\u80fd\u4e0e\u809d\u529f\u80fd\u8bc4\u4f30\u3002\u63a5\u53d7\u96c4\u6fc0\u7d20\u6cbb\u7597\u8005\u9700\u7279\u522b\u76d1\u6d4b\u809d\u4e0e\u5185\u5206\u6ccc\u3002\u4e3a\u51cf\u5c11\u53e3\u8154\u767d\u6591\u4e0e\u7ee7\u53d1\u611f\u67d3\u98ce\u9669\uff0c\u5efa\u8bae\u6bcf6\u4e2a\u6708\u53e3\u8154\u68c0\u67e5\u5e76\u4fdd\u6301\u826f\u597d\u53e3\u8154\u536b\u751f\u3002\u907f\u514d\u5438\u70df\u3001\u8fc7\u5ea6\u65e5\u6652\u4e0e\u90e8\u5206\u836f\u7269\u53ef\u964d\u4f4e\u80bf\u7624\u4e0e\u5e76\u53d1\u75c7\u98ce\u9669\u3002<br>DC\/TBD\u6781\u7f55\u89c1\uff0c\u4e00\u822c\u4eba\u7fa4\u53d1\u75c5\u7387\u4e0d\u660e\u3002\u81f32022\u5e743\u6708\uff0c\u5168\u7403\u8bb0\u5f55\u75c5\u4f8b\u7ea6800\u81f31,000\u4f8b\uff0c\u51f8\u663e\u5176\u9700\u8981\u4e13\u4e1a\u5316\u7167\u62a4\u4e0e\u8fdb\u4e00\u6b65\u7814\u7a76\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%80Leber%E5%85%88%E5%A4%A9%E6%80%A7%E9%BB%91%E6%9C%A6%E3%80%81%E6%97%A9%E5%8F%91%E5%9E%8B%E9%87%8D%E5%BA%A6%E8%A7%86%E7%BD%91%E8%86%9C%E8%90%A5%E5%85%BB%E4%B8%8D%E8%89%AF%EF%BC%88Leber_Congenital_Amaurosis_Early-Onset_Severe_Retinal_Dystrophy%EF%BC%89\"><\/span>[\uff17_GUCY2D]\u3000Leber\u5148\u5929\u6027\u9ed1\u6726\u3001\u65e9\u53d1\u578b\u91cd\u5ea6\u89c6\u7f51\u819c\u8425\u517b\u4e0d\u826f\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>Leber\u5148\u5929\u6027\u9ed1\u67261\u578b\uff08LCA1\uff09\u7531\u4f4d\u4e8e17p13.1\u7684GUCY2D\u57fa\u56e0\u53d8\u5f02\u5f15\u8d77\u3002\u8be5\u57fa\u56e0\u7f16\u7801\u89c6\u7ec6\u80de\u6746\u9525\u4f53\u4e2d\u91cd\u8981\u7684\u7f51\u819c\u9e1f\u82f7\u9178\u73af\u5316\u91761\uff08RETGC-1\uff09\uff0c\u8d1f\u8d23\u751f\u6210cGMP\uff0c\u53c2\u4e0e\u5149\u4fe1\u53f7\u8f6c\u5bfc\u4e2d\u5149\u54cd\u5e94\u6062\u590d\u7684\u5173\u952e\u8fc7\u7a0b\uff0c\u4ea6\u53ef\u80fd\u53c2\u4e0e\u86cb\u767d\u5411\u5916\u8282\u7684\u8fd0\u8f93\u3002RETGC-1\u5931\u5e38\u4f1a\u81f4\u89c6\u7ec6\u80de\u529f\u80fd\u969c\u788d\u4e0e\u4e25\u91cd\u53d8\u6027\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>LCA1\u901a\u5e38\u5728\u51fa\u751f\u6216\u5e7c\u5e74\u65e9\u671f\u8d77\u75c5\uff0c\u5c5e\u4e8e\u201cLeber\u5148\u5929\u6027\u9ed1\u6726\uff08LCA\uff09\u201d\u4e0e\u201c\u65e9\u53d1\u91cd\u5ea6\u89c6\u7f51\u819c\u8425\u517b\u4e0d\u826f\uff08EOSRD\uff09\u201d\u8c31\u7cfb\u4e2d\u5c24\u4e3a\u4e25\u91cd\u7684\u4e00\u7aef\u3002\u5176\u7279\u5f81\u5305\u62ec\u81ea\u51fa\u751f\u5373\u91cd\u5ea6\u89c6\u529b\u4f4e\u4e0b\u6216\u5931\u660e\u3001\u773c\u7403\u9707\u98a4\u3001\u77b3\u5b54\u5bf9\u5149\u53cd\u5e94\u51cf\u5f31\u6216\u6d88\u5931\uff0c\u4ee5\u53ca\u63c9\u3001\u6309\u3001\u6233\u773c\u7684\u201c\u773c\u6570\u5b57\u5f81\u201d\u3002\u8fd8\u53ef\u89c1\u754f\u5149\u3001\u91cd\u5ea6\u8fdc\u89c6\u3001\u5706\u9525\u89d2\u819c\u548c\u968f\u65f6\u95f4\u8fdb\u5c55\u7684\u89c6\u7f51\u819c\u8272\u7d20\u6539\u53d8\u3002\u7535\u751f\u7406\uff08ERG\uff09\u591a\u51e0\u4e4e\u65e0\u53cd\u5e94\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>\u5a74\u5e7c\u513f\u671f\u773c\u5e95\u53ef\u80fd\u5916\u89c2\u6b63\u5e38\uff0c\u968f\u9f84\u51fa\u73b0\u8272\u7d20\u6027\u89c6\u7f51\u819c\u75c5\u53d8\u3001\u8840\u7ba1\u72ed\u7a84\u3001\u9ec4\u6591\u840e\u7f29\u4e0e\u89c6\u795e\u7ecf\u82cd\u767d\u3002\u4ea6\u53ef\u4f34\u89c6\u795e\u7ecf\u4e73\u5934\u73bb\u7483\u6837\u5c0f\u4f53\u4e0e\u6676\u72b6\u4f53\u6df7\u6d4a\u3002\u5c3d\u7ba1\u89c6\u529f\u80fd\u4e25\u91cd\u53d7\u635f\uff0cOCT\u5e38\u663e\u793a\u89c6\u7f51\u819c\u7ed3\u6784\u76f8\u5bf9\u4fdd\u5b58\uff0c\u8fd9\u63d0\u793a\u6062\u590dRETGC-1\u529f\u80fd\u7684\u6cbb\u7597\u53ef\u80fd\u6539\u5584\u89c6\u529b\u3002<br>LCA\u603b\u4f53\u53d1\u751f\u7387\u7ea61\/80,000\uff0cGUCY2D\u53d8\u5f02\u5360\u5168\u90e8LCA\u76846%\u81f321%\u3002\u9057\u4f20\u65b9\u5f0f\u591a\u4e3a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u3002LCA1\u7684\u89c6\u529b\u901a\u5e38\u4ecb\u4e8e\u65e0\u5149\u611f\u4e0e\u7ea60.05\u4e4b\u95f4\uff0c\u81ea\u7136\u6062\u590d\u53ef\u80fd\u6027\u4f4e\u3002<br>\u7ba1\u7406\u9700\u591a\u5b66\u79d1\u534f\u4f5c\uff0c\u81ea\u65e9\u671f\u5373\u4ecb\u5165\u53d1\u80b2\u652f\u6301\u4e0e\u4f4e\u89c6\u529b\u5eb7\u590d\uff0c\u8f85\u4ee5\u6559\u80b2\u4e0e\u5eb7\u590d\u8d44\u6e90\u53ca\u89c6\u529b\u8f85\u52a9\u88c5\u7f6e\u3002<br>\u8fd1\u5e74\u57fa\u56e0\u6cbb\u7597\u53d6\u5f97\u8fdb\u5c55\uff0c\u4f8b\u5982\u5411\u89c6\u7ec6\u80de\u9012\u9001GUCY2D\u6b63\u5e38\u62f7\u8d1d\u4ee5\u6062\u590dRETGC-1\u529f\u80fd\u3002\u8bf8\u5982ATSN-101\u7b49\u65b0\u7597\u6cd5\u4e3aLCA1\u60a3\u8005\u5e26\u6765\u5e0c\u671b\uff0c\u6709\u671b\u7ef4\u6301\u6216\u6539\u5584\u89c6\u529b\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%E9%9A%90%E6%80%A7%E5%85%88%E5%A4%A9%E6%80%A7%E9%B1%BC%E9%B3%9E%E7%97%85%EF%BC%88Autosomal_Recessive_Congenital_Ichthyosis%EF%BC%89\"><\/span>[\uff18_ALOX12B,\uff19_ALOXE3]\u3000\u5e38\u67d3\u8272\u4f53\u9690\u6027\u5148\u5929\u6027\u9c7c\u9cde\u75c5\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\u9690\u6027\u5148\u5929\u6027\u9c7c\u9cde\u75c5\uff08ARCI\uff09\u662f\u4e00\u7ec4\u7531\u76ae\u80a4\u5c4f\u969c\u5f62\u6210\u76f8\u5173\u57fa\u56e0\u53d8\u5f02\u5f15\u8d77\u7684\u7f55\u89c1\u9057\u4f20\u6027\u76ae\u80a4\u75c5\uff0c\u5176\u4e2dALOX12B\u4e0eALOXE3\u5c24\u4e3a\u91cd\u8981\u3002\u53d8\u5f02\u4f1a\u963b\u788d\u5f62\u6210\u4e0e\u7ef4\u6301\u76ae\u80a4\u5c4f\u969c\u6240\u9700\u9176\u7684\u529f\u80fd\u3002ARCI\u7279\u5f81\u4e3a\u5148\u5929\u6216\u5a74\u5e7c\u513f\u65e9\u671f\u51fa\u73b0\u7684\u5e7f\u6cdb\u6027\u9cde\u5c51\u6027\u8131\u5c51\u4e0e\u7ea2\u6591\u3002\u4e9a\u578b\u5305\u62ec\u677f\u5c42\u578b\u9c7c\u9cde\u75c5\uff08LI\uff09\u4e0e\u5148\u5929\u6027\u9c7c\u9cde\u6837\u7ea2\u76ae\u75c5\uff08CIE\uff09\u7b49\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\u7f16\u780112-\u8102\u6c27\u5408\u9176\uff0c\u53c2\u4e0e\u89d2\u8d28\u7ec6\u80de\u8102\u8d28\u5305\u819c\u5f62\u6210\uff0c\u5bf9\u03c9-\u7f9f\u57fa\u795e\u7ecf\u9170\u80fa\u4fee\u9970\u81f3\u5173\u91cd\u8981\uff0c\u4ece\u800c\u7ef4\u6301\u76ae\u80a4\u4fdd\u6e7f\u4e0e\u5c4f\u969c\u9632\u62a4\u3002ALOX12B\u53d8\u5f02\u5bfc\u81f4ARCI2\uff0c\u51fa\u751f\u65f6\u5e38\u89c1\u8584\u800c\u6709\u5149\u6cfd\u7684\u201c\u7f8a\u76ae\u819c\u201d\uff0c\u968f\u540e\u8131\u843d\u5e76\u53d1\u5c55\u4e3aLI\u6216CIE\u7684\u9cde\u5c51\u4e0e\u7ea2\u6591\u3002\u591a\u6570ALOX12B\u53d8\u5f02\u8005\u8868\u73b0\u4e3a\u7ec6\u5c0f\u9cde\u5c51\u4e0e\u7ea2\u6591\u7684\u8f7b\u4e2d\u5ea6CIE\u3002<br>ALOXE3\u7f16\u7801\u8fc7\u6c27\u5316\u7269\u5f02\u6784\u9176\uff0c\u4f4d\u4e8eALOX12B\u4e0b\u6e38\uff0c\u540c\u5c5e\u8102\u8d28\u4fee\u9970\u901a\u8def\uff0c\u751f\u6210\u8f85\u52a9\u5c4f\u969c\u5f62\u6210\u7684\u8102\u8d28\u884d\u751f\u7269\u3002ALOXE3\u529f\u80fd\u7f3a\u5931\u81f4ARCI3\uff0c\u4e34\u5e8a\u4e0a\u517c\u5177LI\u4e0eCIE\u7279\u5f81\u3002\u7ea6\u4e09\u5206\u4e4b\u4e00ALOXE3\u53d8\u5f02\u8005\u51fa\u751f\u65f6\u6709\u7f8a\u76ae\u819c\uff0c\u6b64\u540e\u591a\u8868\u73b0\u4e3a\u8f7b\u4e2d\u5ea6CIE\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>ARCI\u65b0\u751f\u513f\u56e0\u5c4f\u969c\u53d7\u635f\uff0c\u9762\u4e34\u8131\u6c34\u3001\u4f53\u6e29\u8c03\u8282\u969c\u788d\u3001\u611f\u67d3\u4e0e\u547c\u5438\u5e76\u53d1\u75c7\u9ad8\u98ce\u9669\u3002\u7f8a\u76ae\u819c\u4f1a\u968f\u7740\u65f6\u95f4\u5265\u843d\uff0c\u8f6c\u53d8\u4e3a\u5168\u8eab\u6027\u9cde\u5c51\u4e0e\u7ea2\u6591\u3002\u91cd\u75c7\u7684\u54c8\u96f7\u6606\u9c7c\u9cde\u75c5\u5f62\u6210\u539a\u677f\u6837\u76ae\u4e0e\u6df1\u88c2\u9699\uff0c\u53ef\u5371\u53ca\u751f\u547d\uff0c\u9700\u91cd\u75c7\u65b0\u751f\u513f\u62a4\u7406\u4e0e\u7cfb\u7edf\u6027\u7ef4\u7532\u9178\u6cbb\u7597\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>\u7ba1\u7406\u805a\u7126\u7f13\u89e3\u5c4f\u969c\u635f\u4f24\u7684\u5f71\u54cd\uff0c\u5305\u62ec\u9ad8\u6e7f\u5ea6\u73af\u5883\u4fdd\u6e7f\u3001\u536b\u751f\u7ba1\u7406\u9884\u9632\u611f\u67d3\u3001\u75bc\u75db\u4e0e\u4ee3\u8c22\u7ba1\u7406\u3002\u65e9\u671f\u4f7f\u7528\u4fdd\u6e7f\u5242\u53ef\u5f3a\u5316\u5c4f\u969c\u5e76\u964d\u4f4e\u5e76\u53d1\u75c7\u4e0e\u7279\u5e94\u6027\u76ae\u708e\u98ce\u9669\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>\u8f7b\u578bARCI\u968f\u65f6\u95f4\u53ef\u6539\u5584\uff0c\u4f46\u591a\u9057\u7559\u5e72\u71e5\u3001\u8f7b\u5ea6\u9cde\u5c51\u4e0e\u89d2\u5316\u8fc7\u5ea6\u3002\u91cd\u578b\u5982\u54c8\u96f7\u6606\u578b\u53ef\u80fd\u957f\u671f\u5b58\u5728\u708e\u75c7\u3001\u8010\u70ed\u5dee\u3001\u5173\u8282\u631b\u7f29\u4e0e\u773c\u90e8\u5f02\u5e38\u3002\u6210\u4eba\u671f\u76ae\u80a4\u764c\u98ce\u9669\u53ef\u80fd\u589e\u52a0\uff0c\u9700\u7ec8\u751f\u76d1\u6d4b\u4e0e\u62a4\u7406\u3002<br>\u8bca\u65ad\u9700\u57fa\u56e0\u68c0\u6d4b\u3001\u5236\u5b9a\u4e2a\u4f53\u5316\u6cbb\u7597\u65b9\u6848\uff0c\u5e76\u63a8\u8fdb\u9488\u5bf9\u6839\u672c\u9057\u4f20\u6216\u751f\u5316\u7f3a\u9677\u7684\u6cbb\u7597\u7814\u7a76\u3002\u65b0\u751f\u513f\u62a4\u7406\u8fdb\u6b65\u4e0e\u65e9\u671f\u5e72\u9884\u6539\u5584\u4e86\u9884\u540e\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%E8%86%88%E7%96%9D%E3%80%81%E8%84%8A%E8%82%8B%E9%AA%A8%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%EF%BC%88Congenital_Diaphragmatic_Hernia_Spondylocostal_Dysostosis%EF%BC%89\"><\/span>[\uff11\uff10_HES7]\u3000\u5148\u5929\u6027\u8188\u759d\u3001\u810a\u808b\u9aa8\u53d1\u80b2\u4e0d\u826f\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\u53d1\u80b2\u5f02\u5e38\u75c74\u578b\uff08SCDO4\uff09\u4e0e\u5148\u5929\u6027\u8188\u759d\uff08CDH\uff09\u4e0eHES7\u57fa\u56e0\u53d8\u5f02\u76f8\u5173\u3002HES7\u7f16\u7801\u8f6c\u5f55\u56e0\u5b50HES-7\uff0c\u8c03\u63a7DNA\u8f6c\u5f55\uff0c\u53c2\u4e0e\u4e2d\u80da\u5c42\u591a\u79cd\u7ed3\u6784\u7684\u53d1\u80b2\uff0c\u5e76\u4f5c\u4e3a\u8f6c\u5f55\u6291\u5236\u56e0\u5b50\u4f5c\u7528\u4e8e\u542bN\u76d2\u4e0eE\u76d2\u7684\u542f\u52a8\u5b50\u3002\u5176\u529f\u80fd\u53d7\u635f\u53ef\u81f4\u4e25\u91cd\u53d1\u80b2\u5f02\u5e38\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\u56e0\u80da\u80ce\u671f\u5206\u8282\u5f02\u5e38\u81f4\u690e\u808b\u7578\u5f62\uff0c\u8868\u73b0\u4e3a\u8eaf\u5e72\u76f8\u5bf9\u77ee\u77ed\u3001\u77ed\u9888\u3001\u8f7b\u5ea6\u4e0d\u8fdb\u5c55\u6027\u810a\u67f1\u4fa7\u5f2f\u3001\u690e\u4f53\u878d\u5408\u3001\u534a\u690e\u4f53\u3001\u808b\u9aa8\u540e\u65b9\u878d\u5408\u3001\u808b\u9aa8\u6570\u76ee\u51cf\u5c11\u6216\u5f62\u6001\u5f02\u5e38\u3002\u65b0\u751f\u513f\u53ef\u56e0\u80f8\u5ed3\u5c0f\u800c\u547c\u5438\u53d7\u9650\uff0c\u91cd\u75c7\u9700\u91cd\u75c7\u76d1\u62a4\uff0c\u4f46\u7ea6\u81f32\u5c81\u80ba\u751f\u957f\u6539\u5584\uff0c\u90e8\u5206\u53ef\u8f83\u6b63\u5e38\u53d1\u80b2\u3002\u91cd\u75c7\u4ecd\u53ef\u5e76\u53d1\u6162\u6027\u547c\u8870\u3001\u80ba\u9ad8\u538b\u4e0e\u5fc3\u810f\u95ee\u9898\u3002\u7537\u6027SCDO\u60a3\u8005\u8179\u80a1\u6c9f\u759d\u98ce\u9669\u9ad8\uff0c\u9700\u53ca\u65f6\u5904\u7406\u3002<\/p>\n\n\n\n<p>\u8bca\u65ad\u4f9d\u8d56X\u7ebf\u663e\u793a\u5206\u8282\u5f02\u5e38\u4e0e\u808b\u9aa8\u7578\u5f62\uff0c\u5e76\u901a\u8fc7\u5305\u62ecHES7\u5728\u5185\u7684\u76f8\u5173\u57fa\u56e0\u81f4\u75c5\u53d8\u5f02\u786e\u8bca\u3002\u6cbb\u7597\u5305\u62ec\u91cd\u5ea6\u4fa7\u5f2f\u7684\u5916\u79d1\u5e72\u9884\u3001\u6025\u6162\u6027\u547c\u8870\u7684\u547c\u5438\u652f\u6301\uff0c\u4ee5\u53ca\u5bf9\u751f\u957f\u3001\u810a\u67f1\u5f2f\u66f2\u3001\u80ba\u529f\u80fd\u4e0e\u795e\u7ecf\u95ee\u9898\u7684\u5b9a\u671f\u76d1\u6d4b\u3002\u56e0SCDO\u7531HES7\u53d8\u5f02\u81f4\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff0c\u9057\u4f20\u54a8\u8be2\u3001\u643a\u5e26\u8005\u68c0\u6d4b\u4e0e\u4ea7\u524d\u8bca\u65ad\u53ef\u884c\u3002\u8d85\u58f0\u53ef\u5728\u598a\u5a20\u7ea613\u5468\u68c0\u6d4b\u810a\u67f1\u5f02\u5e38\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\u4e3aHES7\u76f8\u5173SCDO\u5c11\u6570\u75c5\u4f8b\u7684\u5408\u5e76\u75c7\uff0c\u8868\u73b0\u4e3a\u6a2a\u8188\u5f62\u6210\u6216\u808c\u5316\u4e0d\u5168\uff0c\u6a2a\u8188\u7ec4\u7ec7\u7f3a\u635f\u6216\u4e0d\u8db3\uff0c\u6216\u6a2a\u8188\u53d8\u8584\u5e76\u5f02\u5e38\u62ac\u9ad8\u3002\u591a\u5728\u51fa\u751f\u65f6\u5373\u663e\u73b0\uff0c\u53d1\u751f\u7387\u7ea6\u4e3a\u6bcf1\u4e07\u4eba3\u81f33.6\u4f8b\u3002HES7\u76f8\u5173SCDO\u4e2dCDH\u4e0d\u8db310%\u3002\u65b0\u751f\u513f\u671f\u9700\u7acb\u523b\u7ed9\u4e88\u9002\u5f53\u547c\u5438\u652f\u6301\u4ee5\u5e94\u5bf9\u81f4\u547d\u6027\u547c\u8870\u3002<br>\u603b\u4f53\u663e\u793a\uff0cHES7\u53d8\u5f02\u5f3a\u8c03\u65e9\u671f\u80da\u80ce\u53d1\u80b2\u4e0e\u8f6c\u5f55\u8c03\u63a7\u5bf9\u690e\u3001\u808b\u4e0e\u6a2a\u8188\u5f62\u6210\u7684\u5173\u952e\u4f5c\u7528\u3002\u8bca\u65ad\u3001\u7ba1\u7406\u4e0e\u54a8\u8be2\u7f3a\u4e00\u4e0d\u53ef\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%80Meckel%E7%BB%BC%E5%90%88%E5%BE%8113%E3%83%BBJoubert%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Meckel_syndrome_13%E3%83%BBJoubert_Syndrome%EF%BC%89\"><\/span>[\uff11\uff11_TMEM107]\u3000Meckel\u7efc\u5408\u5f8113\u30fbJoubert\u7efc\u5408\u5f81\uff08Meckel syndrome 13\u30fbJoubert 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>Meckel\u7efc\u5408\u5f8113\u7531TMEM107\u53d8\u5f02\u5f15\u8d77\uff0c\u6781\u7f55\u89c1\u4e14\u4e25\u91cd\uff0c\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u3002\u4e3b\u8981\u7279\u5f81\u4e3a\u56ca\u6027\u80be\u75c5\u3001\u8111\u53d1\u80b2\u7578\u5f62\uff08\u5c24\u4ee5\u6795\u90e8\u8111\u81a8\u51fa\uff09\u4e0e\u56e0\u677f\u72b6\u5f62\u6210\u5f02\u5e38\u81f4\u809d\u7ea4\u7ef4\u5316\u3002\u8fd8\u53ef\u89c1\u591a\u6307\u3001\u5c0f\u8111\u8693\u90e8\u53d1\u80b2\u4e0d\u5168\u3002Meckel\u7efc\u5408\u5f81\u81f4\u6b7b\u6027\u6781\u9ad8\uff0c\u591a\u5728\u80ce\u5185\u6216\u751f\u540e\u4e0d\u4e45\u6b7b\u4ea1\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\u7f16\u7801\u8de8\u819c\u86cb\u767d107\uff0c\u53c2\u4e0e\u7ea4\u6bdb\u5f62\u6210\u4e0e\u529f\u80fd\u3002\u7ea4\u6bdb\u8c03\u63a7\u53d1\u80b2\u5173\u952e\u4fe1\u53f7\u901a\u8def\uff0c\u5982SHH\u3001WNT\u3001PDGF\uff0c\u5f71\u54cd\u795e\u7ecf\u3001\u9aa8\u9abc\u3001\u989c\u9762\u4e0e\u9885\u9aa8\u53d1\u80b2\u3002TMEM107\u53d8\u5f02\u81f4\u7ea4\u6bdb\u6570\u76ee\u51cf\u5c11\uff0c\u51fa\u73b0\u5f02\u5e38\u7ec6\u957f\u626d\u66f2\u7b49\u7f3a\u9677\uff0c\u5f15\u53d1Meckel\u7efc\u5408\u5f81\u7684\u91cd\u5ea6\u53d1\u80b2\u969c\u788d\u3002<br>Meckel\u7efc\u5408\u5f81\u5c5e\u4e8e\u201c\u7ea4\u6bdb\u75c5\u201d\u8c31\u7cfb\uff0c\u5176\u4e2d\u5305\u62ecJoubert\u7efc\u5408\u5f81\uff08JS\uff09\u3002JS\u8f83Meckel\u8f7b\uff0c\u90e8\u5206\u53ef\u5b58\u6d3b\u81f3\u513f\u7ae5\u6216\u6210\u4eba\u671f\uff0c\u4f46\u5728\u8111\u7578\u5f62\u3001\u591a\u6307\u3001\u809d\u80be\u5f02\u5e38\u7b49\u65b9\u9762\u9ad8\u5ea6\u76f8\u4f3c\u3002\u540c\u4e00\u5bb6\u65cf\u5185\u53ef\u6709\u4e2a\u4f53\u8868\u73b0\u4e3aMeckel\uff0c\u53e6\u6709\u4e2a\u4f53\u4e3aJS\uff0c\u63d0\u793a\u4e24\u8005\u4e3a\u540c\u4e00\u8c31\u7cfb\u4e0d\u540c\u4e25\u91cd\u5ea6\u3002\u901a\u5e38\u529f\u80fd\u5b8c\u5168\u7f3a\u5931\u7684\u53d8\u5f02\u81f4Meckel\uff0c\u8f83\u8f7b\u53d8\u5f02\u81f4JS\u3002<br>JS\u7279\u5f81\u4e3a\u5f71\u50cf\u5b66\u201c\u78e8\u7259\u5f81\u201d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4e0e\u5a74\u513f\u671f\u547c\u5438\u5f02\u5e38\u3002\u5c1a\u53ef\u89c1\u89c6\u529b\u969c\u788d\u3001\u8bed\u8a00\u8fdf\u7f13\u4e0e\u5e7f\u6cdb\u7684\u667a\u529b\u5dee\u5f02\u3002TMEM107\u76f8\u5173JS\u7684\u4e9a\u578b\u201c\u53e3\u9762\u6307\u7efc\u5408\u5f81\uff08JS-OFD\uff09\u201d\u51fa\u73b0\u820c\u80bf\u7624\u3001\u816d\u88c2\u3001\u53e3\u8154\u9ecf\u819c\u76b1\u895e\u7b49\uff0c\u4f7f\u4e0eMeckel\u7684\u754c\u9650\u66f4\u4e3a\u6a21\u7cca\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>Meckel\u7efc\u5408\u5f81\u6cbb\u7597\u4ee5\u5bf9\u75c7\u4e3a\u4e3b\uff0c\u56e0\u81f4\u6b7b\u7387\u9ad8\u3002\u5df2\u77e5\u98ce\u9669\u5bb6\u65cf\u5e94\u4f18\u5148\u8003\u8651\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u7b49\u65e9\u671f\u8bca\u65ad\u3002\u867d\u65e0\u6cbb\u6108\u65b9\u6cd5\uff0c\u4f46\u5bf9\u76f8\u5173\u7ea4\u6bdb\u75c5\u5982JS\u7684\u7279\u5b9a\u5e76\u53d1\u75c7\u5e72\u9884\u53ef\u83b7\u76ca\uff0c\u5305\u62ec\u5bf9\u547c\u5438\u5f02\u5e38\u3001\u8fd0\u52a8\u95ee\u9898\u4e0e\u53d1\u80b2\u8fdf\u7f13\u7684\u6cbb\u7597\uff0c\u4ee5\u53ca\u5bf9\u816d\u88c2\u3001\u591a\u6307\u3001\u809d\u80be\u5f02\u5e38\u7684\u5916\u79d1\u6216\u5185\u79d1\u5904\u7406\u3002\u5b58\u6d3b\u8005\u9700\u591a\u5b66\u79d1\u7167\u62a4\u3002<br>\u603b\u4f53\u9884\u540e\u4e25\u5cfb\uff0c\u53cd\u6620\u7ea4\u6bdb\u529f\u80fd\u969c\u788d\u5bf9\u65e9\u671f\u53d1\u80b2\u7684\u6df1\u8fdc\u5f71\u54cd\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%92_CTC1%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E5%8F%91%E8%82%B2%E4%B8%8D%E8%89%AF%E5%8F%8A%E7%9B%B8%E5%85%B3%E7%AB%AF%E7%B2%92%E7%94%9F%E7%89%A9%E5%AD%A6%E7%96%BE%E7%97%85%EF%BC%88Dyskeratosis_Congenita_and_Related_Telomere_Biology_Disorders%EF%BC%89\"><\/span>[\uff11\uff12_CTC1]\u3000\u5148\u5929\u6027\u53d1\u80b2\u4e0d\u826f\u53ca\u76f8\u5173\u7aef\u7c92\u751f\u7269\u5b66\u75be\u75c5\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\u6709\u4e00\u4f8b38\u5c81\u5df2\u5a5a\u5973\u6027\u643a\u5e26CTC1\u57fa\u56e0\u533a\u57df\u4e24\u5904\u53d8\u5f02\uff0c\u88ab\u8bca\u65ad\u4e3aCoats plus\u7efc\u5408\u5f81\u7684\u62a5\u9053\u3002\u6b64\u7f55\u89c1\u9057\u4f20\u75c5\u4f34\u968f\u590d\u6742\u533b\u7597\u6311\u6218\uff0c\u4f46\u5728\u6070\u5f53\u6cbb\u7597\u3001\u7167\u62a4\u4e0e\u652f\u6301\u4e0b\uff0c\u53d7\u7d2f\u513f\u7ae5\u4ecd\u53ef\u5e26\u7740\u5e0c\u671b\u751f\u6d3b\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\u7efc\u5408\u5f81\uff0c\u6b63\u5f0f\u540d\u79f0\u4e3a\u201c\u8111\u89c6\u7f51\u819c\u5fae\u8840\u7ba1\u75c5\u4f34\u9499\u5316\u4e0e\u56ca\u80bf1\u578b\uff08CRMCC1\uff09\u201d\uff0c\u7531CTC1\u57fa\u56e0\u53d8\u5f02\u5bfc\u81f4\u7684\u7f55\u89c1\u9690\u6027\u9057\u4f20\u75c5\u3002\u5176\u53d1\u75c5\u6d89\u53ca\u5206\u522b\u81ea\u7236\u6bcd\u7ee7\u627f\u7684\u4e24\u4e2a\u5f02\u5e38\u7b49\u4f4d\u57fa\u56e0\u3002CTC1\u662fCST\u590d\u5408\u4f53\u7684\u7ec4\u6210\u6210\u5206\uff0c\u8d1f\u8d23\u7a33\u5b9a\u7aef\u7c92\u5e76\u8f85\u52a9DNA\u51c6\u786e\u590d\u5236\u3002CTC1\u53d8\u5f02\u4f7f\u590d\u5408\u4f53\u529f\u80fd\u5931\u5e38\uff0c\u7aef\u7c92\u7f29\u77ed\u3001\u67d3\u8272\u4f53\u6613\u635f\uff0c\u8fdb\u800c\u5f15\u53d1\u75be\u75c5\u8868\u73b0\u3002<br>\u8be5\u75c5\u7d2f\u53ca\u795e\u7ecf\u7cfb\u7edf\u53ca\u5168\u8eab\u3002\u795e\u7ecf\u65b9\u9762\u6709\u8111\u5185\u9499\u5316\u3001\u767d\u8d28\u635f\u4f24\u4e0e\u8111\u56ca\u80bf\uff0c\u5bfc\u81f4\u75c9\u631b\u3001\u5171\u6d4e\u5931\u8c03\u3001\u808c\u5f20\u529b\u969c\u788d\u3001\u766b\u75eb\u4e0e\u8ba4\u77e5\u4e0b\u964d\u3002\u773c\u90e8\u65b9\u9762\u5e38\u89c1\u7c7b\u4f3cCoats\u75c5\u7684\u89c6\u7f51\u819c\u8840\u7ba1\u6269\u5f20\u4e0e\u6e17\u51fa\u3002<br>\u5168\u8eab\u8868\u73b0\u5305\u62ec\u9aa8\u8d28\u758f\u677e\u5bfc\u81f4\u9aa8\u8106\uff0c\u80c3\u80a0\u4e0e\u809d\u810f\u8840\u7ba1\u5f02\u5e38\u5f15\u8d77\u6d88\u5316\u9053\u51fa\u8840\u4e0e\u95e8\u8109\u9ad8\u538b\u3002\u8fd8\u53ef\u89c1\u6bdb\u53d1\u3001\u76ae\u80a4\u3001\u6307\u7532\u5f02\u5e38\uff0c\u4ee5\u53ca\u8d2b\u8840\u4e0e\u8840\u5c0f\u677f\u51cf\u5c11\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>\u7531\u4e8e\u4e0e\u5176\u4ed6\u7aef\u7c92\u76f8\u5173\u75c5\u5982\u201c\u5f02\u5e38\u89d2\u5316\u75c7\u201d\u5171\u4eab\u7279\u5f81\uff0c\u9700\u5c3d\u65e9\u7b5b\u67e5\u9aa8\u9ad3\u529f\u80fd\u4f4e\u4e0b\u3001\u80bf\u7624\u3001\u80ba\u4e0e\u809d\u75c5\u7b49\u5e76\u53d1\u75c7\u3002\u4e0eLabrune\u7efc\u5408\u5f81\u7684\u9274\u522b\u8981\u70b9\u5305\u62ec\u662f\u5426\u6709\u7cfb\u7edf\u6027\u8868\u73b0\u3002<br>\u7814\u7a76\u663e\u793a\uff0c\u5f02\u5e38\u86cb\u767d\u5bfc\u81f4CST\u590d\u5408\u4f53\u529f\u80fd\u969c\u788d\uff0c\u63a8\u8fdb\u7aef\u7c92\u7f29\u77ed\u4e0e\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u63a8\u52a8\u75be\u75c5\u8fdb\u5c55\u4e0e\u75c7\u72b6\u52a0\u91cd\u3002<br>\u603b\u4e4b\uff0cCoats plus\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u590d\u6742\u75be\u75c5\uff0c\u6db5\u76d6\u773c\u75c5\u3001\u8111\u9499\u5316\u4e0e\u635f\u4f24\u3001\u9aa8\u8106\u3001\u6d88\u5316\u9053\u95ee\u9898\u7b49\u591a\u65b9\u9762\u3002\u5176\u75c5\u7406\u57fa\u7840\u662fCTC1\u53d8\u5f02\u81f4\u7aef\u7c92\u4fdd\u62a4\u53d7\u635f\uff0c\u5f3a\u8c03CST\u590d\u5408\u4f53\u7684\u91cd\u8981\u6027\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%93_RANGRF%E3%80%80Brugada%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Brugada_Syndrome%EF%BC%89\"><\/span>[\uff11\uff13_RANGRF]\u3000Brugada\u7efc\u5408\u5f81\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>Brugada\u7efc\u5408\u5f81\u662f\u5bfc\u81f4\u5fc3\u810f\u7535\u6d3b\u52a8\u5f02\u5e38\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u53ef\u5f15\u53d1\u751f\u547d\u5371\u9669\u7684\u5fc3\u5f8b\u5931\u5e38\u4e0e\u731d\u6b7b\u3002\u6700\u5e38\u76f8\u5173\u7684\u57fa\u56e0\u4e3aSCN5A\uff0c\u7f16\u7801\u7ef4\u6301\u5fc3\u810f\u8282\u5f8b\u7684\u94a0\u901a\u9053Nav1.5\u3002RANGRF\u57fa\u56e0\u540c\u6837\u91cd\u8981\uff0c\u7f16\u7801MOG1\u86cb\u767d\uff0c\u4f5c\u4e3a\u8f85\u52a9\u56e0\u5b50\u5e2e\u52a9Nav1.5\u6b63\u786e\u5b9a\u4f4d\u4e8e\u5fc3\u808c\u7ec6\u80de\u819c\u5e76\u53d1\u6325\u529f\u80fd\u3002RANGRF\u53d8\u5f02\u4f1a\u59a8\u788dNav1.5\u819c\u5b9a\u4f4d\uff0c\u964d\u4f4e\u94a0\u901a\u9053\u529f\u80fd\uff0c\u5bfc\u81f4\u5fc3\u5f8b\u5f02\u5e38\u4e0e\u731d\u6b7b\u98ce\u9669\u4e0a\u5347\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>Brugada\u7efc\u5408\u5f81\u901a\u5e38\u5728\u6210\u4eba\u671f\u8d77\u75c5\uff0c\u4ea6\u53ef\u89c1\u4e8e\u5a74\u513f\u81f3\u8001\u5e74\u3002\u731d\u6b7b\u5e73\u5747\u5e74\u9f84\u7ea640\u5c81\u3002\u7279\u5f81\u6027\u5fc3\u7535\u56fe\u8868\u73b0\u4e3aV1\u81f3V3\u5bfc\u8054ST\u6bb5\u5f02\u5e38\u4e0e\u5fc3\u5ba4\u6027\u5fc3\u5f8b\u5931\u5e38\u98ce\u9669\u589e\u9ad8\u3002\u4e34\u5e8a\u75c7\u72b6\u5305\u62ec\u6655\u53a5\u3001\u5a74\u513f\u731d\u6b7b\u7efc\u5408\u5f81\uff0c\u4ee5\u53ca\u4e3b\u8981\u89c1\u4e8e\u4e1c\u5357\u4e9a\u7684\u591c\u95f4\u731d\u6b7b\u7efc\u5408\u5f81\u3002\u7537\u6027\u60a3\u75c5\u7387\u7ea6\u4e3a\u5973\u6027\u76848\u500d\uff0c\u513f\u7ae5\u671f\u6781\u7f55\u89c1\u3002<br>\u8bca\u65ad\u57fa\u4e8e\u7279\u5f81\u6027\u5fc3\u7535\u56fe\u6240\u89c1\uff0c\u53ef\u81ea\u7136\u663e\u73b0\u6216\u836f\u7269\u8bf1\u53d1\u3002\u7ed3\u5408\u4e2a\u4eba\u4e0e\u5bb6\u65cf\u53f2\uff0c\u82e5\u53d1\u73b0SCN5A\u6216\u5176\u4ed6\u76f8\u5173\u57fa\u56e0\u81f4\u75c5\u53d8\u5f02\u5219\u786e\u8bca\u3002<br>\u6cbb\u7597\u4ee5\u9884\u9632\u731d\u6b7b\u4e3a\u76ee\u6807\u3002\u6709\u6655\u53a5\u6216\u5fc3\u810f\u9aa4\u505c\u53f2\u8005\uff0c\u690d\u5165\u5f0f\u5fc3\u5f8b\u8f6c\u590d\u9664\u98a4\u5668\uff08ICD\uff09\u662f\u6700\u6709\u6548\u6cbb\u7597\u3002\u9ad8\u98ce\u9669\u60a3\u8005\u53ef\u8f85\u4ee5\u594e\u5c3c\u4e01\u4ee5\u51cf\u5c11\u5fc3\u5f8b\u5931\u5e38\u4e0eICD\u653e\u7535\u3002\u4e00\u4e9b\u75c5\u4f8b\u4e2d\uff0c\u53f3\u5ba4\u6d41\u51fa\u9053\u5fc3\u5916\u819c\u6d88\u878d\u662f\u6709\u524d\u666f\u7684\u9009\u62e9\u3002\u5bf9\u6709\u5bb6\u65cf\u53f2\u6216\u5df2\u77e5\u81f4\u75c5\u53d8\u5f02\u7684\u9ad8\u98ce\u9669\u4eba\u7fa4\uff0c\u5efa\u8bae\u5b9a\u671f\u5fc3\u7535\u56fe\u76d1\u6d4b\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>\u9884\u9632\u65b9\u9762\uff0c\u907f\u514d\u9ad8\u70ed\u3001\u7279\u5b9a\u836f\u7269\u4e0e\u53ef\u8bf1\u53d1\u5fc3\u5f8b\u5931\u5e38\u7684\u7269\u8d28\u5341\u5206\u91cd\u8981\u3002<br>Brugada\u7efc\u5408\u5f81\u591a\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u5373\u53d7\u7d2f\u7236\u6bcd\u7684\u5b50\u5973\u670950%\u6982\u7387\u9057\u4f20\u3002\u5916\u663e\u7387\u4e0d\u5b8c\u5168\u4e0e\u8868\u73b0\u5dee\u5f02\u663e\u8457\uff0c\u643a\u5e26\u53d8\u5f02\u8005\u672a\u5fc5\u53d1\u75c5\u3002\u5c11\u6570\u4e3a\u65b0\u751f\u7a81\u53d8\u3002\u5efa\u8bae\u53d7\u7d2f\u5bb6\u65cf\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\uff0c\u82e5\u5df2\u660e\u786e\u81f4\u75c5\u53d8\u5f02\uff0c\u53ef\u8fdb\u884c\u4ea7\u524d\u6216\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u3002<br>\u5168\u7403\u60a3\u75c5\u7387\u4f30\u8ba1\u7ea61\/2,000\uff0c\u4f46\u5730\u533a\u4e0e\u65cf\u7fa4\u5dee\u5f02\u663e\u8457\u3002\u4e9a\u6d32\u4e0e\u4e2d\u4e1c\u8f83\u9ad8\uff0c\u897f\u73ed\u7259\u88d4\u4e0e\u767d\u4eba\u8f83\u5c11\u3002\u591a\u6570\u60a3\u8005\u65e0\u75c7\u72b6\uff0c\u7ea630%\u6709\u6655\u53a5\uff0c8%\u81f312%\u53ef\u53d1\u751f\u5fc3\u810f\u9aa4\u505c\u3002\u65e9\u671f\u8bc6\u522b\u4e0e\u5e72\u9884\u81f3\u5173\u91cd\u8981\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%80Diamond-Blackfan%E8%B4%AB%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\"><\/span>[\uff11\uff14_RPL26]\u3000Diamond-Blackfan\u8d2b\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>Diamond-Blackfan\u8d2b\u884011\uff08DBA11\uff09\u7531RPL26\u57fa\u56e0\u53d8\u5f02\u5f15\u8d77\u3002RPL26\u7f16\u7801\u6838\u7cd6\u4f53\u7ed3\u6784\u6210\u5206\uff0c\u53c2\u4e0e\u86cb\u767d\u5408\u6210\u3002RPL26\u529f\u80fd\u7f3a\u5931\u4f1a\u5bfc\u81f4\u6838\u7cd6\u4f53\u529f\u80fd\u969c\u788d\uff0c\u4ece\u800c\u5f15\u53d1DBA11\u3002DBA\u662f\u5a74\u513f\u671f\u5185\u51fa\u73b0\u7684\u518d\u751f\u969c\u788d\u6027\u8d2b\u8840\u3002<br>\u4e3b\u8981\u7279\u5f81\u4e3a\u4e2d\u81f3\u91cd\u5ea6\u8d2b\u8840\uff0c\u5e38\u89c1\u7ea2\u7ec6\u80de\u4f53\u79ef\u504f\u5927\u3002\u9aa8\u9ad3\u4e2d\u7ea2\u7cfb\u524d\u4f53\u7ec6\u80de\u663e\u8457\u51cf\u5c11\uff0c\u800c\u767d\u7ec6\u80de\u4e0e\u8840\u5c0f\u677f\u901a\u5e38\u6b63\u5e38\u300230%\u81f340%\u60a3\u8005\u4f34\u751f\u957f\u969c\u788d\u6216\u5148\u5929\u7578\u5f62\uff0c\u5305\u62ec\u988c\u9762\u5f02\u5e38\uff08\u5982Pierre Robin\u5e8f\u5217\u3001\u816d\u88c2\uff09\u3001\u62c7\u6307\u5f02\u5e38\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u5f02\u5e38\u3002\u91cd\u75c7\u53ef\u56e0\u80ce\u513f\u671f\u8d2b\u8840\u51fa\u73b0\u80ce\u513f\u6c34\u80bf\u3002DBA\u8fd8\u589e\u52a0\u67d0\u4e9b\u80bf\u7624\u98ce\u9669\uff0c\u5982\u6025\u6027\u9ad3\u7cfb\u767d\u8840\u75c5\u3001\u9aa8\u9ad3\u589e\u751f\u5f02\u5e38\u7efc\u5408\u5f81\u4e0e\u9aa8\u8089\u7624\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>\u8bca\u65ad\u4f9d\u636e\u751f\u540e\u4e00\u5e74\u5185\u51fa\u73b0\u7684\u5927\u7ec6\u80de\u6027\u8d2b\u8840\u3001\u7f51\u7ec7\u7ea2\u7ec6\u80de\u51cf\u5c11\u3001\u9aa8\u9ad3\u7ea2\u7cfb\u524d\u4f53\u7f3a\u4e4f\uff0c\u5e76\u6392\u9664\u5176\u4ed6\u539f\u56e0\u3002\u5206\u5b50\u8bca\u65ad\u901a\u8fc7\u68c0\u6d4b\u4e0eDBA\u76f8\u5173\u7684\u81f4\u75c5\u53d8\u5f02\u3002\u591a\u6570\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u4e5f\u6709GATA1\u6216TSR2\u53d8\u5f02\u5bfc\u81f4\u7684X\u8fde\u9501\u9057\u4f20\u3002<br>\u6cbb\u7597\u4ee5\u6539\u5584\u8d2b\u8840\u4e0e\u9884\u9632\u5e76\u53d1\u75c7\u4e3a\u4e2d\u5fc3\u300212\u4e2a\u6708\u4ee5\u4e0a\u513f\u7ae5\u5bf9\u7cd6\u76ae\u8d28\u6fc0\u7d20\u5e38\u6709\u7597\u6548\uff0c\u4f46\u957f\u671f\u4f7f\u7528\u98ce\u9669\u5305\u62ec\u611f\u67d3\u3001\u6210\u957f\u6291\u5236\u4e0e\u9aa8\u5bc6\u5ea6\u4e0b\u964d\u3002\u5bf9\u6fc0\u7d20\u65e0\u6548\u6216\u526f\u4f5c\u7528\u663e\u8457\u8005\uff0c\u9700\u53cd\u590d\u7ea2\u7ec6\u80de\u8f93\u6ce8\u6216\u9020\u8840\u5e72\u7ec6\u80de\u79fb\u690d\uff08HSCT\uff09\u3002HSCT\u662f\u6cbb\u6108DBA\u8d2b\u8840\u7684\u552f\u4e00\u65b9\u6cd5\u3002\u9aa8\u3001\u773c\u4e0e\u5185\u5206\u6ccc\u95ee\u9898\u9700\u591a\u5b66\u79d1\u5904\u7406\u3002\u80bf\u7624\u6cbb\u7597\u65f6\u9700\u8c28\u614e\u4f7f\u7528\u5316\u7597\u4ee5\u907f\u514d\u8840\u7ec6\u80de\u8fdb\u4e00\u6b65\u4e0b\u964d\u3002<br>\u8f93\u8840\u76f8\u5173\u94c1\u8fc7\u8f7d\u7b49\u6b21\u751f\u5e76\u53d1\u75c7\u4f7f\u7528\u94c1\u87af\u5408\u6cbb\u7597\u3002\u9700\u5b9a\u671f\u76d1\u6d4b\u94c1\u8d1f\u8377\u4e0e\u6fc0\u7d20\u526f\u4f5c\u7528\u3002\u968f\u8bbf\u5305\u542b\u8840\u6db2\u4e0e\u9aa8\u9ad3\u8bc4\u4f30\u4ee5\u53ca\u80bf\u7624\u7b5b\u67e5\u3002\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\u53ef\u8bc6\u522b\u9ad8\u5371\u5bb6\u65cf\u5e76\u5b9e\u73b0\u65e9\u671f\u5e72\u9884\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>DBA\u4e3b\u8981\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c40%\u81f345%\u75c5\u4f8b\u81ea\u7236\u6bcd\u9057\u4f20\uff0c\u5176\u4f59\u4e3a\u65b0\u751f\u7a81\u53d8\u3002X\u8fde\u9501\u60c5\u5f62\u4e0b\uff0c\u643a\u5e26\u53d8\u5f02\u7684\u7537\u6027\u5c06\u53d8\u5f02\u4f20\u7ed9\u5168\u90e8\u5973\u513f\u800c\u975e\u513f\u5b50\uff1b\u5973\u6027\u643a\u5e26\u8005\u4f20\u9012\u6982\u7387\u4e3a50%\uff0c\u513f\u5b50\u53d7\u9057\u4f20\u5219\u53d1\u75c5\uff0c\u5973\u513f\u591a\u4e3a\u643a\u5e26\u8005\u3002<br>\u598a\u5a20\u671f\u5e94\u5bc6\u5207\u76d1\u6d4b\u6bcd\u4f53\u8840\u7ea2\u86cb\u767d\uff0c\u5fc5\u8981\u65f6\u4f7f\u7528\u4f4e\u5242\u91cf\u963f\u53f8\u5339\u6797\u4ee5\u964d\u4f4e\u5e76\u53d1\u75c7\u98ce\u9669\u3002\u5efa\u8bae\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\uff0c\u5e76\u53ef\u9009\u62e9\u4ea7\u524d\u6216\u690d\u5165\u524d\u8bca\u65ad\u3002<br>DBA\u8868\u660e\u6838\u7cd6\u4f53\u529f\u80fd\u4e0e\u5168\u8eab\u53d1\u80b2\u5bc6\u5207\u76f8\u5173\uff0c\u6838\u7cd6\u4f53\u7f3a\u9677\u53ef\u5bfc\u81f4\u8840\u6db2\u5f02\u5e38\u4e0e\u591a\u7cfb\u7edf\u5148\u5929\u7578\u5f62\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%95%9C%E5%83%8F%E8%BF%90%E5%8A%A8%EF%BC%88Congenital_Mirror_Movements%EF%BC%89\"><\/span>[\uff11\uff15_NTN1]\u3000\u5148\u5929\u6027\u955c\u50cf\u8fd0\u52a8\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>\u955c\u50cf\u8fd0\u52a84\u578b\uff08MRMV4\uff09\u7531NTN1\u57fa\u56e0\u53d8\u5f02\u5f15\u8d77\u3002NTN1\u7f16\u7801\u7f51\u86cb\u767d-1\uff0c\u53c2\u4e0e\u795e\u7ecf\u8f74\u7a81\u5411\u5bfc\u4e0e\u7ec6\u80de\u5b58\u6d3b\u3002\u7f51\u86cb\u767d-1\u5f15\u5bfc\u4e2d\u67a2\u4ea4\u8054\u8f74\u7a81\u4e0e\u5916\u5468\u8fd0\u52a8\u8f74\u7a81\u751f\u957f\uff0c\u901a\u8fc7\u4e0eDCC\u4e0eUNC5\u5bb6\u65cf\u53d7\u4f53\u7ed3\u5408\uff0c\u8c03\u63a7\u8f74\u7a81\u7684\u201c\u5438\u5f15\u201d\u4e0e\u201c\u6392\u65a5\u201d\u3002\u4f8b\u5982\u4e0eUNC5C\u7ed3\u5408\u53ef\u4f7f\u53d7\u4f53\u4e0e\u5fae\u7ba1\u5206\u79bb\uff0c\u589e\u5f3a\u5fae\u7ba1\u52a8\u6001\u5e76\u4fc3\u8fdb\u6392\u65a5\u3002\u7f51\u86cb\u767d-1\u8fd8\u901a\u8fc7\u6291\u5236\u51cb\u4ea1\u4fc3\u8fdb\u795e\u7ecf\u7ec6\u80de\u5b58\u6d3b\uff0c\u4e0e\u80bf\u7624\u53d1\u751f\u53d1\u5c55\u4ea6\u76f8\u5173\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>\u7f51\u86cb\u767d-1\u529f\u80fd\u4e27\u5931\u53ef\u81f4MRMV4\uff0c\u5448\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u3002\u5176\u7279\u5f81\u4e3a\u4e00\u4fa7\u968f\u610f\u8fd0\u52a8\u5728\u5bf9\u4fa7\u51fa\u73b0\u955c\u50cf\u7684\u975e\u81ea\u4e3b\u52a8\u4f5c\u3002\u5e7c\u513f\u671f\u53ef\u6709\u4e00\u8fc7\u6027\u955c\u50cf\u8fd0\u52a8\uff0c\u4f46\u8d85\u8fc77\u5c81\u4ecd\u5b58\u5728\u5219\u5c5e\u5f02\u5e38\u3002MRMV4\u591a\u7d2f\u53ca\u4e0a\u80a2\uff0c\u5c24\u4ee5\u624b\u6307\u4e0e\u624b\u90e8\u52a8\u4f5c\u6700\u660e\u663e\u3002\u6b65\u884c\u901a\u5e38\u4e0d\u53d7\u5f71\u54cd\uff0c\u4f46\u8db3\u8dbe\u808c\u8089\u53ef\u8f7b\u5ea6\u53d7\u7d2f\u3002<br>\u5148\u5929\u6027\u955c\u50cf\u8fd0\u52a8\u901a\u5e38\u81ea\u5e7c\u51fa\u73b0\uff0c\u8d2f\u7a7f\u6210\u5e74\uff0c\u4e0d\u8fdb\u5c55\u4ea6\u4e0d\u6539\u5584\u3002\u5f3a\u5ea6\u4e2a\u4f53\u5dee\u5f02\u660e\u663e\uff0c\u901a\u5e38\u5f31\u4e8e\u523b\u610f\u52a8\u4f5c\u3002\u90e8\u5206\u4eba\u56e0\u91cd\u590d\u624b\u5de5\u6216\u6301\u7eed\u52a8\u4f5c\u51fa\u73b0\u4e0a\u80a2\u75bc\u75db\uff0c\u5f71\u54cd\u7cbe\u7ec6\u4f5c\u4e1a\u4e0e\u5355\u624b\u4efb\u52a1\u3002\u8111MRI\u901a\u5e38\u6b63\u5e38\uff0c\u4f46\u82e5\u7531DCC\u53d8\u5f02\u6240\u81f4\uff0c\u53ef\u89c1\u80fc\u80dd\u4f53\u90e8\u5206\u6216\u5b8c\u5168\u7f3a\u5982\u3002\u8fc4\u4eca\u5c1a\u65e0\u56e0NTN1\u53d8\u5f02\u800c\u62a5\u544a\u80fc\u80dd\u4f53\u5f02\u5e38\u7684\u75c5\u4f8b\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>\u6cbb\u7597\u4ee5\u9002\u5e94\u4e3a\u4e3b\uff0c\u56e0\u5176\u975e\u8fdb\u5c55\u6027\u3002\u5bf9\u513f\u7ae5\u53ef\u5728\u6559\u80b2\u4e0a\u7ed9\u4e88\u5ef6\u957f\u8003\u8bd5\u65f6\u95f4\u3001\u51cf\u5c11\u4e66\u5199\u4efb\u52a1\u7b49\u7167\u987e\u3002\u9752\u5c11\u5e74\u4e0e\u6210\u4eba\u5b9c\u9009\u62e9\u4e0d\u9700\u590d\u6742\u53cc\u624b\u534f\u8c03\u6216\u957f\u65f6\u95f4\u624b\u5de5\u7684\u804c\u4e1a\u3002\u4e3a\u51cf\u5c11\u793e\u4f1a\u504f\u89c1\u5e76\u53d1\u6325\u4e2a\u4f53\u6f5c\u80fd\uff0c\u5fc3\u7406\u652f\u6301\u4ea6\u91cd\u8981\u3002<br>\u8be5\u75c5\u5448\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u4f46\u5916\u663e\u7387\u53ef\u80fd\u8f83\u4f4e\uff0c\u56e0\u6b64\u5373\u4f7f\u9057\u4f20\u4e86\u81f4\u75c5\u53d8\u5f02\u4e5f\u672a\u5fc5\u53d1\u75c5\u3002\u672a\u53d1\u75c5\u7236\u6bcd\u4ea6\u53ef\u80fd\u5c06\u53d8\u5f02\u4f20\u7ed9\u5b50\u5973\u3002\u82e5\u5df2\u660e\u786e\u81f4\u75c5\u53d8\u5f02\uff0c\u53ef\u9009\u62e9\u4ea7\u524d\u6216\u690d\u5165\u524d\u8bca\u65ad\u3002<br>\u60a3\u75c5\u7387\u6781\u4f4e\uff0c\u4f30\u8ba1\u4f4e\u4e8e1\/1,000,000\uff0c\u4f46\u8f7b\u75c7\u6f0f\u8bca\u591a\uff0c\u5b9e\u9645\u60a3\u75c5\u7387\u53ef\u80fd\u66f4\u9ad8\u3002\u4e3b\u8981\u81f4\u75c5\u57fa\u56e0\u4e3aNTN1\u3001DCC\u6216RAD51\uff0c\u5176\u4e2d\u4ee5DCC\u76f8\u5173\u6700\u5e38\u89c1\uff0c\u5916\u663e\u7387\u7ea642%\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=\"%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span>\u672a\u6765\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740DNA\u6d4b\u5e8f\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u4f5c\u4e3a\u66ff\u4ee3\u4f20\u7edfFISH\u4e0e\u7f8a\u6c34\u7a7f\u523a\u7b49\u4fb5\u5165\u6027\u65b9\u6cd5\u7684\u9ad8\u53ef\u9760\u4e14\u5b89\u5168\u7684\u7b5b\u67e5\u624b\u6bb5\u5df2\u9010\u6e10\u666e\u53ca\u3002\u7f8a\u6c34\u7a7f\u523a\u9700\u7528\u9488\u7a7f\u523a\u5b50\u5bab\u83b7\u53d6\u7f8a\u6c34\u6216\u7ed2\u6bdb\u7ec6\u80de\uff0c\u800cNIPT\u901a\u8fc7\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513f\u6e38\u79bbDNA\u8fdb\u884c\u8bc4\u4f30\uff0c\u4e0d\u589e\u52a0\u6bcd\u4f53\u4e0e\u80ce\u513f\u98ce\u9669\uff0c\u56e0\u800c\u6210\u4e3a\u8d8a\u6765\u8d8a\u591a\u5b55\u5987\u7684\u9009\u62e9\u3002<br>\u5373\u4fbf\u68c0\u51fa\u9057\u4f20\u5f02\u5e38\uff0c\u8bb8\u591a\u60c5\u51b5\u4e0b\uff0c\u5b69\u5b50\u4f9d\u7136\u6709\u673a\u4f1a\u6210\u957f\u5e76\u62e5\u6709\u5145\u5b9e\u7684\u4eba\u751f\u3002\u968f\u7740\u7814\u7a76\u8fdb\u5c55\uff0c\u8fd9\u79cd\u53ef\u80fd\u6027\u5728\u4e0d\u65ad\u6269\u5927\u3002\u671f\u5f85NIPT\u5e26\u6765\u7684\u65e9\u671f\u53d1\u73b0\u6210\u4e3a\u83b7\u5f97\u5b89\u5fc3\u4e0e\u4e3a\u5bb6\u5ead\u672a\u6765\u505a\u597d\u51c6\u5907\u7684\u52a9\u529b\uff0c\u800c\u975e\u65b0\u7684\u4e0d\u5b89\u6765\u6e90\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%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\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]. 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