{"id":83493,"date":"2024-11-14T14:15:05","date_gmt":"2024-11-14T05:15:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83493"},"modified":"2026-03-04T14:08:35","modified_gmt":"2026-03-04T05:08:35","slug":"5q14_3_deletion_syndrome-proximal-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/","title":{"rendered":"5q14.3\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u75c7\u5019\u7fa4\u3001MEF2C\u95a2\u9023\u75be\u60a3\u3001\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa42\u578b\u306f\u3001\u3044\u305a\u308c\u3082\u907a\u4f1d\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u75be\u60a3\u304c\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u3084\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u3055\u308c\u308b\u306e\u304b\u3092\u5305\u62ec\u7684\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u907a\u4f1d\u7684\u80cc\u666f\u3084\u3001\u60a3\u8005\u304a\u3088\u3073\u305d\u306e\u5bb6\u65cf\u306b\u5fc5\u8981\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3066\u3044\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/#%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/#%EF%BC%91_RASA1%E3%80%80%E6%AF%9B%E7%B4%B0%E8%A1%80%E7%AE%A1%E5%A5%87%E5%BD%A2-%E5%8B%95%E9%9D%99%E8%84%88%E5%A5%87%E5%BD%A2%EF%BC%88Capillary_Malformation-Arteriovenous_Malformation_Syndrome%EF%BC%89\" >[\uff11_RASA1]\u3000\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62-\u52d5\u9759\u8108\u5947\u5f62\uff08Capillary Malformation-Arteriovenous Malformation Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/#%EF%BC%92_MEF2C%E3%80%80MEF2C%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%EF%BC%88MEF2C-Related_Disorder%EF%BC%89\" >[\uff12_MEF2C]\u3000MEF2C\u95a2\u9023\u75be\u60a3\uff08MEF2C-Related Disorder\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\/5q14_3_deletion_syndrome-proximal-2\/#%EF%BC%93_ADGRV1%E3%80%80%E3%82%A2%E3%83%83%E3%82%B7%E3%83%A3%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%EF%BC%88Usher_Syndrome_Type_2%EF%BC%89\" >[\uff13_ADGRV1]\u3000\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa42\u578b\uff08Usher Syndrome Type 2\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/5q14.3-hgtIdeo_genome_1cde66_dfe320-1024x20.png\" alt=\"5q14.3 \" class=\"wp-image-90833\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">RASA1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62-\u52d5\u9759\u8108\u5947\u5f62<\/td><td class=\"has-text-align-center\" data-align=\"center\">Capillary Malformation-Arteriovenous Malformation Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">MEF2C<\/td><td class=\"has-text-align-center\" data-align=\"center\">MEF2C\u95a2\u9023\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">MEF2C-Related Disorder<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">ADGRV1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa42\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Usher Syndrome Type 2<\/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\/chromo5-MeDRNUcKWLAeMACReMAAALLX.png\" alt=\"chromo5\" class=\"wp-image-89830\"\/><\/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_RASA1%E3%80%80%E6%AF%9B%E7%B4%B0%E8%A1%80%E7%AE%A1%E5%A5%87%E5%BD%A2-%E5%8B%95%E9%9D%99%E8%84%88%E5%A5%87%E5%BD%A2%EF%BC%88Capillary_Malformation-Arteriovenous_Malformation_Syndrome%EF%BC%89\"><\/span>[\uff11_RASA1]\u3000\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62-\u52d5\u9759\u8108\u5947\u5f62\uff08Capillary Malformation-Arteriovenous Malformation 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\/2024\/11\/5q14.3-hgtIdeo_genome_1cde66_dfe320-1024x20.png\" alt=\"5q14.3 \" class=\"wp-image-90833\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/bd3ec26b42b91274c1c0279fd6c0a9bd-1024x20.png\" alt=\"RASA1\u3000\" class=\"wp-image-90846\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62-\u52d5\u9759\u8108\u5947\u5f62\u75c7\u5019\u7fa4\uff08Capillary Malformation-Arteriovenous Malformation Syndrome\u3001CM-AVM\uff09\u306f\u3001\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u4e3b\u306bRASA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f535q14.3\u9818\u57df\u306b\u5b58\u5728\u3057\u3001\u7d30\u80de\u306e\u6210\u9577\u3001\u5206\u5316\u3001\u5897\u6b96\u3092\u8abf\u6574\u3059\u308bRas\/MAPK\u7d4c\u8def\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u8840\u7ba1\u5f62\u6210\u304c\u59a8\u3052\u3089\u308c\u3001\u672c\u75be\u60a3\u7279\u6709\u306e\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u9854\u3084\u56db\u80a2\u306b\u73fe\u308c\u308b\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\uff08Capillary Malformations, CM\uff09\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u76f4\u5f841\uff5e2\u30bb\u30f3\u30c1\u30e1\u30fc\u30c8\u30eb\u7a0b\u5ea6\u306e\u5c0f\u3055\u306a\u75c5\u5909\u3067\u3001\u8272\u306f\u30d4\u30f3\u30af\u304b\u3089\u8d64\u8910\u8272\u3001\u5f62\u72b6\u306f\u5186\u5f62\u307e\u305f\u306f\u6955\u5186\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u75c5\u5909\u3067\u306f\u3001\u5468\u56f2\u306b\u767d\u3044\u30cf\u30ed\u30fc\uff08\u767d\u304f\u629c\u3051\u305f\u3088\u3046\u306a\u90e8\u5206\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u52d5\u9759\u8108\u5947\u5f62\uff08Arteriovenous Malformations, AVMs\uff09\u3084\u52d5\u9759\u8108\u763b\uff08Arteriovenous Fistulas, AVFs\uff09\u3068\u547c\u3070\u308c\u308b\u9ad8\u901f\u8840\u6d41\u578b\u306e\u8840\u7ba1\u7570\u5e38\u304c\u3001\u76ae\u819a\u3001\u7b4b\u8089\u3001\u9aa8\u3001\u810a\u690e\u3001\u8133\u306a\u3069\u306b\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8840\u7ba1\u7570\u5e38\u306f\u3001\u51fa\u8840\u3001\u5fc3\u4e0d\u5168\u3001\u795e\u7d4c\u75c7\u72b6\u3068\u3044\u3063\u305f\u751f\u547d\u3092\u8105\u304b\u3059\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u8133\u5185\u306eAVMs\u3084AVFs\u306f\u5e7c\u5c11\u671f\u304b\u3089\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30627636_s.jpg\" alt=\"\u30d1\u30fc\u30c4\" class=\"wp-image-90849\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u306b\u57fa\u3065\u304d\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u3084\u52d5\u9759\u8108\u5947\u5f62\u304c\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u306b\u52a0\u3048\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067RASA1\u3084EPHB4\u306e\u75c5\u7684\u5909\u7570\u304c\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u30ea\u30b9\u30af\u8a55\u4fa1\u3068\u65e9\u671f\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002\u907a\u4f1d\u5b66\u7684\u306b\u306f\u3001CM-AVM\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3067\u3001\u60a3\u8005\u306e\u5b50\u4f9b\u306b50\uff05\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002RASA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u5834\u5408\u300170\uff05\u306f\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u6b8b\u308a\u306e30\uff05\u306f\u65b0\u898f\u5909\u7570\u3067\u3059\u3002\u540c\u69d8\u306bEPHB4\u5909\u7570\u306e\u5834\u5408\u308280\uff05\u304c\u907a\u4f1d\u6027\u300120\uff05\u304c\u65b0\u898f\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u3053\u3068\u3067\u3059\u3002\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u304c\u5916\u898b\u4e0a\u306e\u554f\u984c\u3068\u3057\u3066\u61f8\u5ff5\u3055\u308c\u308b\u5834\u5408\u306f\u76ae\u819a\u79d1\u533b\u306e\u8a3a\u5bdf\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u52d5\u9759\u8108\u5947\u5f62\u3084\u52d5\u9759\u8108\u763b\u306e\u6cbb\u7642\u3067\u306f\u3001\u585e\u6813\u8853\u3084\u5916\u79d1\u7684\u624b\u8853\u306e\u9069\u5fdc\u3092\u614e\u91cd\u306b\u8a55\u4fa1\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u5fc3\u81d3\u306b\u8ca0\u62c5\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u5faa\u74b0\u5668\u5c02\u9580\u533b\u304c\u5bfe\u5fdc\u3057\u3001\u811a\u306e\u9577\u3055\u306e\u4e0d\u5747\u8861\u3084\u7247\u5074\u80a5\u5927\uff08\u7247\u5074\u6027\u904e\u5f62\u6210\uff09\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u6574\u5f62\u5916\u79d1\u533b\u306e\u8a3a\u5bdf\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s-1.jpg\" alt=\"\u624b\u624b(\u624b)\" class=\"wp-image-88946\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u4e00\u90e8\u306e\u60a3\u8005\u306b\u306f\u3001\u30d1\u30fc\u30af\u30b9\u30fb\u30a6\u30a7\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\uff08Parkes Weber Syndrome\uff09\u3068\u547c\u3070\u308c\u308b\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u6bdb\u7d30\u8840\u7ba1\u306e\u67d3\u307f\uff08\u8d64\u3044\u76ae\u819a\u75c5\u5909\uff09\u3084\u5fae\u5c0f\u52d5\u9759\u8108\u763b\u306b\u52a0\u3048\u3001\u8edf\u90e8\u7d44\u7e54\u3084\u9aa8\u306e\u904e\u6210\u9577\u3092\u4f34\u3046\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u901a\u5e38\u3001\u5e7c\u5c11\u671f\u304b\u3089\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30ea\u30f3\u30d1\u7cfb\u306e\u7570\u5e38\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30ea\u30f3\u30d1\u6d6e\u816b\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u5727\u8feb\u30b9\u30c8\u30c3\u30ad\u30f3\u30b0\u306e\u4f7f\u7528\u304c\u52b9\u679c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u306e\u7d4c\u904e\u89b3\u5bdf\u306f\u5b9a\u671f\u7684\u306b\u884c\u308f\u308c\u3001\u7279\u306b\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u52d5\u9759\u8108\u5947\u5f62\u3084\u52d5\u9759\u8108\u763b\u306b\u5bfe\u3059\u308b\u753b\u50cf\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002\u8133\u3084\u810a\u690e\u306b\u304a\u3051\u308b\u8840\u7ba1\u7570\u5e38\u306f\u65e9\u671f\u767a\u898b\u304c\u6c42\u3081\u3089\u308c\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u90e8\u4f4d\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u3001\u30ea\u30b9\u30af\u306e\u9ad8\u3044\u89aa\u65cf\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3082\u884c\u3044\u3001\u4e88\u9632\u7684\u306a\u7ba1\u7406\u3092\u9032\u3081\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>CM-AVM\u306e\u767a\u75c7\u7387\u306f\u5730\u57df\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5317\u30e8\u30fc\u30ed\u30c3\u30d1\u3067\u306f1\/100,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001RASA1\u5909\u7570\u306b\u57fa\u3065\u304f\u767a\u75c7\u7387\u304c1\/20,000\u3001EPHB4\u5909\u7570\u3067\u306f1\/12,000\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u767a\u75c7\u7387\u306f\u6bd4\u8f03\u7684\u4f4e\u3044\u3082\u306e\u306e\u3001\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3068\u91cd\u75c7\u5ea6\u304b\u3089\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u533b\u7642\u7ba1\u7406\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3551522_s1.jpg\" alt=\"\u30d6\u30eb\u30d6\u30eb\u30ac\u30bf\u30ac\u30bf\" class=\"wp-image-90855\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u306f\u3001RASA1\u306fRas\/MAPK\u7d4c\u8def\u3092\u5236\u5fa1\u3057\u3001\u8840\u7ba1\u5f62\u6210\u3092\u8abf\u7bc0\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u8840\u7ba1\u306e\u7570\u5e38\u767a\u9054\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001EPHB4\u306f\u9759\u8108\u5185\u76ae\u7d30\u80de\u306b\u7279\u7570\u7684\u306b\u767a\u73fe\u3057\u3001\u52d5\u9759\u8108\u306e\u5206\u5316\u3092\u8abf\u6574\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b20\u5931\u306f\u3001\u8840\u7ba1\u767a\u9054\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CM-AVM\u75c7\u5019\u7fa4\u306f\u81e8\u5e8a\u7684\u306b\u3082\u907a\u4f1d\u7684\u306b\u3082\u975e\u5e38\u306b\u591a\u69d8\u306a\u75c7\u72b6\u3092\u6301\u3064\u75be\u60a3\u3067\u3042\u308a\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u5408\u308f\u305b\u305f\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u5c02\u9580\u5bb6\u306b\u3088\u308b\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u76ee\u6307\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-3-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3002\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3084\u75be\u60a3\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_MEF2C%E3%80%80MEF2C%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%EF%BC%88MEF2C-Related_Disorder%EF%BC%89\"><\/span>[\uff12_MEF2C]\u3000MEF2C\u95a2\u9023\u75be\u60a3\uff08MEF2C-Related Disorder\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/5q14.3-hgtIdeo_genome_1cde66_dfe320-1024x20.png\" alt=\"5q14.3 \" class=\"wp-image-90833\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/MEF2C-hgtIdeo_genome_25c259_e041b0-1024x20.png\" alt=\"\" class=\"wp-image-90861\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MEF2C\u95a2\u9023\u75be\u60a3\u306f\u3001\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u3088\u308a\u3001\u8a00\u8a9e\u767a\u9054\u3084\u904b\u52d5\u6a5f\u80fd\u306b\u6df1\u523b\u306a\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u767a\u8a71\u80fd\u529b\u304c\u8457\u3057\u304f\u5236\u9650\u3055\u308c\u3001\u72ec\u7acb\u3057\u3066\u6b69\u304f\u80fd\u529b\u3092\u6301\u305f\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u4e0b\u3059\u308b\u4f4e\u7dca\u5f35\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u304c\u9855\u8457\u3067\u3001\u8eab\u4f53\u306e\u52d5\u4f5c\u3084\u59ff\u52e2\u7dad\u6301\u306b\u652f\u969c\u304c\u751f\u3058\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u767a\u4f5c\u3001\u8996\u899a\u3084\u5fc3\u81d3\u306e\u7570\u5e38\u3001\u3055\u3089\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u7279\u5fb4\uff08\u793e\u4f1a\u7684\u76f8\u4e92\u4f5c\u7528\u306e\u6e1b\u5c11\u3084\u53cd\u5fa9\u7684\u306a\u624b\u306e\u52d5\u304d\u306a\u3069\uff09\u3082\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u8a71\u306b\u95a2\u3057\u3066\u306f\u3001\u5927\u591a\u6570\u306e\u60a3\u8005\u304c\u5358\u8a9e\u3092\u6570\u8a9e\u4f7f\u3046\u306b\u3068\u3069\u307e\u308a\u3001\u6587\u7ae0\u3092\u69cb\u6210\u3057\u3066\u4f1d\u3048\u308b\u80fd\u529b\u3092\u6301\u305f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6b69\u884c\u80fd\u529b\u306b\u3064\u3044\u3066\u3082\u3001\u7d04\u534a\u6570\u306e\u60a3\u8005\u304c\u72ec\u7acb\u3057\u305f\u6b69\u884c\u304c\u56f0\u96e3\u3067\u3059\u304c\u3001\u88dc\u52a9\u5668\u5177\u3084\u4ed6\u8005\u306e\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u6b69\u884c\u304c\u53ef\u80fd\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/22596930_s.jpg\" alt=\"\u8eca\u3044\u3059\" class=\"wp-image-90870\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001MEF2C\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u75c5\u539f\u6027\u306e\u3042\u308b\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u306b\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002MEF2C\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u767a\u9054\u3068\u6a5f\u80fd\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u795e\u7d4c\u7cfb\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u306e\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u6cbb\u7684\u306a\u3082\u306e\u306f\u5b58\u5728\u305b\u305a\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u6cbb\u7642\u306b\u306f\u3001\u60a3\u8005\u306e\u767a\u9054\u3084\u6559\u80b2\u3092\u652f\u63f4\u3059\u308b\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u63d0\u4f9b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3084\u7406\u5b66\u7642\u6cd5\u58eb\u306b\u3088\u308b\u6b69\u884c\u652f\u63f4\u3001\u6804\u990a\u7ba1\u7406\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3084\u4fbf\u79d8\u306e\u6cbb\u7642\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u767a\u4f5c\u306b\u5bfe\u3057\u3066\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u3001\u5fc3\u81d3\u3084\u8996\u899a\u306e\u554f\u984c\u306b\u306f\u305d\u308c\u305e\u308c\u5fc3\u81d3\u5c02\u9580\u533b\u3084\u773c\u79d1\u533b\u306b\u3088\u308b\u5bfe\u5fdc\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u4e2d\u8033\u708e\u304c\u7e70\u308a\u8fd4\u3057\u8d77\u3053\u308b\u5834\u5408\u306b\u306f\u3001\u6297\u751f\u7269\u8cea\u306e\u6295\u4e0e\u3084\u8033\u7ba1\u306e\u633f\u5165\u624b\u8853\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306b\u52a0\u3048\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u304a\u3088\u3073\u793e\u4f1a\u7684\u652f\u63f4\u304c\u91cd\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"359\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31423182_s.jpg\" alt=\"\u6804\u990a\" class=\"wp-image-87412\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MEF2C\u95a2\u9023\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306e\u591a\u304f\u306e\u75c7\u4f8b\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7a00\u306b\u3001\u7f79\u60a3\u3057\u305f\u89aa\u304b\u3089\u75c5\u539f\u6027\u5909\u7570\u304c\u907a\u4f1d\u3059\u308b\u5834\u5408\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u5909\u7570\u3092\u6301\u3064\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u3059\u308b\u5834\u5408\u3001\u5b50\u3069\u3082\u304c\u75c5\u539f\u6027\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u78ba\u7387\u306f50%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306b\u7279\u6709\u306e\u75c7\u72b6\u306b\u306f\u3001\u767a\u9054\u9045\u6ede\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u6442\u98df\u304a\u3088\u3073\u80c3\u8178\u306e\u554f\u984c\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u5e83\u3044\u984d\u3001\u9855\u8457\u306a\u4eba\u4e2d\u3001\u53cd\u308a\u8fd4\u3063\u305f\u4e0a\u5507\u3001\u5927\u304d\u306a\u8033\u306a\u3069\uff09\u3001\u767a\u4f5c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u3088\u3046\u306a\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u3001\u7761\u7720\u969c\u5bb3\u3001\u5fc3\u81d3\u306e\u5148\u5929\u6027\u7570\u5e38\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\u306a\u3069\uff09\u3001\u8996\u899a\u969c\u5bb3\uff08\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u8133\u306eMRI\u691c\u67fb\u3067\u306f\u8133\u6881\u306e\u4f4e\u5f62\u6210\u3084\u767d\u8cea\u306e\u83f2\u8584\u5316\u3001\u8133\u5ba4\u306e\u62e1\u5927\u3001\u9ac4\u9798\u5f62\u6210\u306e\u9045\u308c\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23282803_s.jpg\" alt=\"\u6570\u3048\u305f\u3089\u5bdd\u308c\u308b\u304b\u306a\u3041\" class=\"wp-image-90873\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u5229\u7528\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u3067\u306f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u6442\u98df\u652f\u63f4\u304c\u884c\u308f\u308c\u3001\u60a3\u8005\u306e\u767a\u9054\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u767a\u8a71\u304c\u56f0\u96e3\u306a\u5834\u5408\u306b\u306f\u3001\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08AAC\uff09\u306e\u4f7f\u7528\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002AAC\u306b\u306f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u6587\u5b57\u76e4\u306a\u3069\u306e\u4f4e\u6280\u8853\u306e\u3082\u306e\u304b\u3089\u3001\u97f3\u58f0\u51fa\u529b\u88c5\u7f6e\u3092\u5099\u3048\u305f\u9ad8\u6280\u8853\u306e\u3082\u306e\u307e\u3067\u3055\u307e\u3056\u307e\u306a\u5f62\u5f0f\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306b\u95a2\u9023\u3059\u308b\u884c\u52d5\u306b\u306f\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u7642\u6cd5\u304c\u52b9\u679c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>MEF2C\u907a\u4f1d\u5b50\u306f\u3001\u795e\u7d4c\u767a\u9054\u306e\u8abf\u7bc0\u3084\u80da\u767a\u751f\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u672c\u75be\u60a3\u306e\u4e3b\u306a\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u3063\u3066\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u73fe\u5728\u306f\u75c7\u72b6\u306e\u7de9\u548c\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u3092\u76ee\u7684\u3068\u3057\u305f\u652f\u63f4\u304c\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_ADGRV1%E3%80%80%E3%82%A2%E3%83%83%E3%82%B7%E3%83%A3%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%EF%BC%88Usher_Syndrome_Type_2%EF%BC%89\"><\/span>[\uff13_ADGRV1]\u3000\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa42\u578b\uff08Usher Syndrome Type 2\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/5q14.3-hgtIdeo_genome_1cde66_dfe320-1024x20.png\" alt=\"5q14.3 \" class=\"wp-image-90833\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/9f960228b7ee54a890b30e05d8eccb7e-1024x20.png\" alt=\"ADGRV1\" class=\"wp-image-90884\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Usher\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7II\uff08USH2\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u67d3\u8272\u4f535q14.3\u9818\u57df\u306b\u5b58\u5728\u3059\u308bADGRV1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u8074\u899a\u969c\u5bb3\u3068\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08Retinitis Pigmentosa: RP\uff09\u3067\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u524d\u5ead\u6a5f\u80fd\uff08\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u62c5\u3046\u5185\u8033\u306e\u6a5f\u80fd\uff09\u306e\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ee5\u4e0b\u3067\u306f\u3001USH2\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u304a\u3088\u3073\u7ba1\u7406\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>USH2\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u306f\u3001\u4f4e\u5468\u6ce2\u97f3\u306b\u5bfe\u3057\u3066\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3001\u9ad8\u5468\u6ce2\u97f3\u306b\u5bfe\u3057\u3066\u306f\u91cd\u5ea6\u304b\u3089\u9ad8\u5ea6\u306e\u4e21\u5074\u6027\u611f\u97f3\u96e3\u8074\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u96e3\u8074\u306f\u3001\u901a\u5e38\u3001\u51fa\u751f\u6642\u304b\u3089\u5b58\u5728\u3057\u3001\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\uff08\u8074\u899a\u691c\u67fb\uff09\u3067\u306f\u300c\u50be\u659c\u578b\u300d\u306e\u7279\u5fb4\u3092\u793a\u3057\u307e\u3059\u3002\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u3001\u8074\u899a\u969c\u5bb3\u304c\u9032\u884c\u3059\u308b\u3068\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u5bb6\u65cf\u9593\u3084\u500b\u4eba\u9593\u3067\u9032\u884c\u306e\u7a0b\u5ea6\u3084\u901f\u5ea6\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30296468_s.jpg\" alt=\"\u307f\u307f\u3092\u3055\u308f\u308b\" class=\"wp-image-90897\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001RP\u306f\u53cc\u5074\u6027\u304b\u3064\u9032\u884c\u6027\u306e\u7db2\u819c\u75be\u60a3\u3067\u3042\u308a\u3001\u8996\u91ce\u306e\u72ed\u7a84\uff08\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\uff09\u3084\u591c\u76f2\u304b\u3089\u59cb\u307e\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u4e2d\u5fc3\u8996\u529b\u306e\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002RP\u306e\u9032\u884c\u901f\u5ea6\u3084\u8996\u529b\u55aa\u5931\u306e\u7a0b\u5ea6\u306f\u3001\u500b\u4eba\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u5149\u3092\u611f\u3058\u308b\u7db2\u819c\u306e\u300c\u687f\u4f53\u7d30\u80de\uff08\u6697\u6240\u3067\u50cd\u304f\uff09\u300d\u304c\u307e\u305a\u5f71\u97ff\u3092\u53d7\u3051\u3001\u305d\u306e\u5f8c\u300c\u9310\u4f53\u7d30\u80de\uff08\u660e\u308b\u3044\u5834\u6240\u3067\u50cd\u304f\uff09\u300d\u3082\u640d\u50b7\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u75c7\u72b6\u304c\u60aa\u5316\u3057\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u524d\u5ead\u6a5f\u80fd\u306f\u4fdd\u6301\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u8efd\u5ea6\u306e\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u524d\u5ead\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3067\u3082\u3001\u591a\u304f\u306f\u7121\u75c7\u72b6\u3067\u3001\u7279\u6b8a\u306a\u691c\u67fb\u306b\u3088\u3063\u3066\u306e\u307f\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>USH2\u306e\u8a3a\u65ad\u306f\u3001\u8074\u899a\u304a\u3088\u3073\u8996\u899a\u6a5f\u80fd\u306e\u8a55\u4fa1\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u8074\u529b\u691c\u67fb\u3001\u96fb\u6c17\u7db2\u819c\u56f3\uff08ERG\uff09\u3001\u8996\u91ce\u691c\u67fb\u3001\u5149\u5e72\u6e09\u65ad\u5c64\u64ae\u5f71\uff08OCT\uff09\u306a\u3069\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001ADGRV1\u3001USH2A\u3001WHRN\u3068\u3044\u3063\u305f\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u539f\u6027\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28046307_s.jpg\" alt=\"\u5b50\u4f9b\u306e\u5065\u5eb7\u8a3a\u65ad\" class=\"wp-image-87829\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306b\u304a\u3044\u3066\u306f\u3001\u8074\u899a\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u65e9\u671f\u306e\u88dc\u8074\u5668\u88c5\u7740\u3084\u8a00\u8a9e\u8a13\u7df4\u304c\u91cd\u8981\u3067\u3059\u3002\u88dc\u8074\u5668\u306b\u3088\u308b\u88dc\u6b63\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3084\u3001\u8074\u899a\u969c\u5bb3\u304c\u91cd\u5ea6\u306e\u5834\u5408\u306f\u3001\u4eba\u5de5\u5185\u8033\u306e\u9069\u5fdc\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002RP\u306b\u95a2\u3057\u3066\u306f\u3001\u6a19\u6e96\u7684\u306a\u7ba1\u7406\u6cd5\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u304c\u3001\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u305f\u3081\u306e\u6cbb\u7642\u3068\u3057\u3066\u6804\u990a\u88dc\u52a9\u98df\u54c1\u3084\u30d3\u30bf\u30df\u30f3A\u306a\u3069\u306e\u5229\u7528\u304c\u4e00\u90e8\u3067\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u30d3\u30bf\u30df\u30f3A\u306e\u9ad8\u7528\u91cf\u6442\u53d6\u306f\u598a\u5a66\u306b\u3068\u3063\u3066\u6709\u5bb3\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3082\u91cd\u8981\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u8074\u899a\u306b\u95a2\u3057\u3066\u306f\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u88c5\u7740\u3057\u305f\u72b6\u614b\u3067\u306e\u5e741\u56de\u306e\u8074\u529b\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u8996\u899a\u306b\u95a2\u3057\u3066\u306f\u3001\u7279\u306b20\u6b73\u4ee5\u964d\u3001RP\u306e\u9032\u884c\u3084\u5408\u4f75\u75c7\uff08\u767d\u5185\u969c\u3084\u56a2\u80de\u69d8\u9ec4\u6591\u6d6e\u816b\uff09\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u305f\u3081\u3001\u5e741\u56de\u306e\u773c\u79d1\u7684\u8a55\u4fa1\u3092\u884c\u3046\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6ce8\u610f\u70b9\u3068\u3057\u3066\u3001\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\u3084\u591c\u76f2\u306f\u65e5\u5e38\u751f\u6d3b\u306b\u304a\u3051\u308b\u4e8b\u6545\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u751f\u6d3b\u74b0\u5883\u3092\u6574\u3048\u3001\u8ee2\u5012\u3084\u885d\u7a81\u3092\u9632\u3050\u5de5\u592b\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u9032\u884c\u6027\u306e\u8996\u91ce\u72ed\u7a84\u306b\u3088\u308a\u904b\u8ee2\u304c\u5371\u967a\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u591c\u9593\u306e\u904b\u8ee2\u306f\u65e9\u671f\u306b\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31513702_s.jpg\" alt=\"\u591c\u306e\u30c9\u30e9\u30a4\u30d6\" class=\"wp-image-90894\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>USH2\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u3069\u3082\u304cUSH2\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002\u5bb6\u65cf\u304cUSH2\u306e\u7279\u6027\u3084\u30ea\u30b9\u30af\u3092\u5341\u5206\u306b\u7406\u89e3\u3057\u3001\u533b\u5b66\u7684\u304a\u3088\u3073\u500b\u4eba\u7684\u306a\u610f\u601d\u6c7a\u5b9a\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u305f\u3081\u306b\u3001\u907a\u4f1d\u5b66\u7684\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u5834\u5408\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u8a3a\u65ad\u304c\u9078\u629e\u80a2\u3068\u3057\u3066\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>USH2\u306e\u767a\u751f\u983b\u5ea6\u306f\u7d041\u4e07\u4eba\u306b\u6570\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u5c0f\u5150\u671f\u306e\u96e3\u8074\u75c7\u4f8b\u306e3%-6%\u3001\u8996\u899a\u3068\u8074\u899a\u306e\u4e21\u65b9\u306b\u969c\u5bb3\u3092\u6301\u3064\u75c7\u4f8b\u306e\u7d0450%\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u306e\u75c7\u72b6\u304c\u601d\u6625\u671f\u4ee5\u964d\u306b\u9855\u8457\u306b\u306a\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u9045\u308c\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30922599_s.jpg\" alt=\"\" class=\"wp-image-90890\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5206\u5b50\u75c5\u614b\u306e\u89b3\u70b9\u304b\u3089\u3001USH2\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u7523\u7269\uff08ADGRV1\u3001USH2A\u3001WHRN\u306a\u3069\uff09\u306f\u300cUsher\u30a4\u30f3\u30bf\u30e9\u30af\u30c8\u30fc\u30e0\u300d\u3068\u547c\u3070\u308c\u308b\u76f8\u4e92\u4f5c\u7528\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u5f62\u6210\u3057\u3001\u5185\u8033\u3084\u7db2\u819c\u306b\u304a\u3051\u308b\u611f\u899a\u795e\u7d4c\u306e\u5065\u5eb7\u3092\u4fdd\u3064\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u76f8\u4e92\u4f5c\u7528\u304c\u4e71\u308c\u308b\u3053\u3068\u3067\u3001USH2\u306e\u75c7\u72b6\u304c\u767a\u73fe\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>USH2\u306f\u81e8\u5e8a\u7684\u306b\u3082\u907a\u4f1d\u7684\u306b\u3082\u975e\u5e38\u306b\u591a\u69d8\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u5fdc\u3058\u305f\u5305\u62ec\u7684\u306a\u8a55\u4fa1\u3068\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u95a2\u3059\u308b\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u306f\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u30fb\u652f\u63f4\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/17q12-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17q12 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17q12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u814e\u7570\u5e38\u3084\u7cd6\u5c3f\u75c5\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1341\/\">Koenekoop R, Arriaga M, Trzupek KM, et al. Usher Syndrome Type II. 1999 Dec 10 [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\/NBK1341\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK610216\/\">Cooley Coleman J, Skinner SA. MEF2C-Related Disorder. 2024 Dec 12. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK610216\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK52764\/\">Bayrak-Toydemir P, Stevenson DA. Capillary Malformation-Arteriovenous Malformation Syndrome. 2011 Feb 22 [Updated 2019 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK52764\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u75c7\u5019\u7fa4\u3001ME&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":86969,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83493","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83493","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83493"}],"version-history":[{"count":19,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83493\/revisions"}],"predecessor-version":[{"id":125381,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83493\/revisions\/125381"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/86969"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83493"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83493"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83493"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}