{"id":85649,"date":"2024-11-14T14:15:05","date_gmt":"2024-11-14T05:15:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/"},"modified":"2025-08-22T09:29:33","modified_gmt":"2025-08-22T00:29:33","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\/?lang=zh-hans","title":{"rendered":"5q14.3\u7f3a\u5931\u7efc\u5408\u5f81"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span 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\/?lang=zh-hans\/#%E6%96%87%E7%AB%A0%E6%91%98%E8%A6%81\" >\u6587\u7ae0\u6458\u8981<\/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\/?lang=zh-hans\/#%E4%B8%8E%E8%AF%A5%E5%9F%BA%E5%9B%A0%E5%BA%A7%E7%9B%B8%E5%85%B3%E7%9A%84%E9%AB%98%E9%A3%8E%E9%99%A9%E7%96%BE%E7%97%85%E5%9F%BA%E5%9B%A0\" >\u4e0e\u8be5\u57fa\u56e0\u5ea7\u76f8\u5173\u7684\u9ad8\u98ce\u9669\u75be\u75c5\u57fa\u56e0<\/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\/?lang=zh-hans\/#%EF%BC%91_RASA1%E3%80%80%E6%AF%9B%E7%BB%86%E8%A1%80%E7%AE%A1%E7%95%B8%E5%BD%A2%E2%80%93%E5%8A%A8%E9%9D%99%E8%84%89%E7%95%B8%E5%BD%A2%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88CM-AVM%EF%BC%89\" >[\uff11_RASA1]\u3000\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u2013\u52a8\u9759\u8109\u7578\u5f62\u7efc\u5408\u5f81\uff08CM-AVM\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\/?lang=zh-hans\/#%EF%BC%92_MEF2C%E3%80%80MEF2C%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\" >[\uff12_MEF2C]\u3000MEF2C\u76f8\u5173\u75be\u75c5<\/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\/?lang=zh-hans\/#%EF%BC%93_ADGRV1%E3%80%80Usher%E7%BB%BC%E5%90%88%E5%BE%812%E5%9E%8B%EF%BC%88USH2%EF%BC%89\" >[\uff13_ADGRV1]\u3000Usher\u7efc\u5408\u5f812\u578b\uff08USH2\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%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>\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u7efc\u5408\u5f81\u3001MEF2C\u76f8\u5173\u75be\u75c5\u4ee5\u53caUsher\u7efc\u5408\u5f812\u578b\uff0c\u90fd\u662f\u5df2\u77e5\u7684\u9057\u4f20\u6027\u7f55\u89c1\u75be\u75c5\u3002\u672c\u6587\u5168\u9762\u89e3\u6790\u4e86\u8fd9\u4e9b\u75be\u75c5\u4f1a\u5f15\u53d1\u54ea\u4e9b\u75c7\u72b6\uff0c\u4ee5\u53ca\u6240\u9700\u7684\u6cbb\u7597\u4e0e\u7ba1\u7406\u65b9\u6cd5\u3002\u540c\u65f6\u4e5f\u4ecb\u7ecd\u4e86\u8fd9\u4e9b\u75be\u75c5\u7684\u9057\u4f20\u80cc\u666f\uff0c\u4ee5\u53ca\u60a3\u8005\u53ca\u5176\u5bb6\u5ead\u6240\u9700\u7684\u652f\u6301\u4f53\u7cfb\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%8E%E8%AF%A5%E5%9F%BA%E5%9B%A0%E5%BA%A7%E7%9B%B8%E5%85%B3%E7%9A%84%E9%AB%98%E9%A3%8E%E9%99%A9%E7%96%BE%E7%97%85%E5%9F%BA%E5%9B%A0\"><\/span><strong>\u4e0e\u8be5\u57fa\u56e0\u5ea7\u76f8\u5173\u7684\u9ad8\u98ce\u9669\u75be\u75c5\u57fa\u56e0<\/strong><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>\u5e8f\u53f7<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u57fa\u56e0\u540d\u79f0<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u65e5\u6587\u75be\u75c5\u540d\u79f0<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u5bf9\u5e94\u7684\u75be\u75c5\u540d\u79f0<\/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\u7ec6\u8840\u7ba1\u7578\u5f62-\u52a8\u9759\u8109\u7578\u5f62<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62-\u52a8\u9759\u8109\u7578\u5f62\u7efc\u5408\u5f81<\/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\u76f8\u5173\u75be\u75c5<\/td><td class=\"has-text-align-center\" data-align=\"center\">MEF2C\u76f8\u5173\u75be\u75c5<\/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\">Usher\u7efc\u5408\u5f812\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Usher\u7efc\u5408\u5f812\u578b<\/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%BB%86%E8%A1%80%E7%AE%A1%E7%95%B8%E5%BD%A2%E2%80%93%E5%8A%A8%E9%9D%99%E8%84%89%E7%95%B8%E5%BD%A2%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88CM-AVM%EF%BC%89\"><\/span>[\uff11_RASA1]\u3000<strong>\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u2013\u52a8\u9759\u8109\u7578\u5f62\u7efc\u5408\u5f81\uff08CM-AVM\uff09<\/strong><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\u7ec6\u8840\u7ba1\u7578\u5f62\u2013\u52a8\u9759\u8109\u7578\u5f62\u7efc\u5408\u5f81\uff08CM-AVM\uff09\u662f\u4e00\u79cd\u5f15\u8d77\u8840\u7ba1\u5f02\u5e38\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u4e3b\u8981\u7531\u4f4d\u4e8e <strong>5q14.3<\/strong> \u7684 <strong>RASA1<\/strong> \u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4\u3002\u8be5\u57fa\u56e0\u5728\u8c03\u8282 <strong>Ras\/MAPK<\/strong> \u4fe1\u53f7\u901a\u8def\u4e2d\u8d77\u5173\u952e\u4f5c\u7528\uff0c\u8d1f\u8d23\u7ec6\u80de\u7684\u751f\u957f\u3001\u5206\u5316\u548c\u589e\u6b96\u3002\u57fa\u56e0\u5f02\u5e38\u4f1a\u59a8\u788d\u6b63\u5e38\u7684\u8840\u7ba1\u5f62\u6210\uff0c\u4ece\u800c\u5f15\u53d1\u672c\u75c5\u7684\u5178\u578b\u75c7\u72b6\u3002\u4e3b\u8981\u75c7\u72b6\u5305\u62ec <strong>\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\uff08CM\uff09<\/strong>\uff0c\u5e38\u89c1\u4e8e\u9762\u90e8\u548c\u56db\u80a2\uff0c\u76f4\u5f84\u7ea61\u20132\u5398\u7c73\uff0c\u989c\u8272\u4ece\u7c89\u7ea2\u5230\u7ea2\u8910\u8272\u4e0d\u7b49\uff0c\u5f62\u72b6\u4e3a\u5706\u5f62\u6216\u692d\u5706\u5f62\u3002\u6709\u4e9b\u75c5\u53d8\u5468\u56f4\u4f1a\u51fa\u73b0\u767d\u8272\u5149\u73af\u3002\u9664\u6b64\u4e4b\u5916\uff0c\u60a3\u8005\u8fd8\u53ef\u80fd\u5728\u76ae\u80a4\u3001\u808c\u8089\u3001\u9aa8\u9abc\u3001\u810a\u67f1\u548c\u5927\u8111\u51fa\u73b0 <strong>\u52a8\u9759\u8109\u7578\u5f62\uff08AVM\uff09<\/strong> \u6216 <strong>\u52a8\u9759\u8109\u7618\uff08AVF\uff09<\/strong>\uff0c\u8fd9\u7c7b\u9ad8\u901f\u8840\u6d41\u8840\u7ba1\u5f02\u5e38\u53ef\u80fd\u5bfc\u81f4\u51fa\u8840\u3001\u5fc3\u529b\u8870\u7aed\u53ca\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\uff0c\u4e25\u91cd\u65f6\u5371\u53ca\u751f\u547d\u3002\u5c24\u5176\u662f\u8111\u90e8AVM\/AVF\u53ef\u80fd\u5728\u5e7c\u513f\u671f\u5373\u51fa\u73b0\u75c7\u72b6\uff0c\u56e0\u6b64\u9700\u8981\u65e9\u671f\u8bca\u65ad\u548c\u7ba1\u7406\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><strong>\u8bca\u65ad<\/strong> \u57fa\u4e8e\u4e34\u5e8a\u8868\u73b0\uff0c\u5f53\u786e\u8ba4\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u6216\u52a8\u9759\u8109\u7578\u5f62\uff0c\u5e76\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u53d1\u73b0 <strong>RASA1<\/strong> \u6216 <strong>EPHB4<\/strong> \u7684\u81f4\u75c5\u6027\u7a81\u53d8\u65f6\uff0c\u53ef\u786e\u8bca\u3002CM-AVM\u4e3a <strong>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20<\/strong>\uff0c\u60a3\u8005\u5b50\u5973\u670950%\u7684\u98ce\u9669\u9057\u4f20\u3002RASA1\u7a81\u53d8\u4e2d\u7ea670%\u6765\u81ea\u7236\u6bcd\u9057\u4f20\uff0c30%\u4e3a\u65b0\u53d1\uff1bEPHB4\u7a81\u53d8\u4e2d\u7ea680%\u4e3a\u9057\u4f20\uff0c20%\u4e3a\u65b0\u53d1\u3002<strong>\u6cbb\u7597<\/strong> \u4ee5\u7f13\u89e3\u75c7\u72b6\u548c\u964d\u4f4e\u5e76\u53d1\u75c7\u98ce\u9669\u4e3a\u76ee\u7684\u3002\u82e5\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u5f71\u54cd\u5916\u89c2\uff0c\u5efa\u8bae\u76ae\u80a4\u79d1\u5c31\u8bca\u3002\u52a8\u9759\u8109\u7578\u5f62\u6216\u7618\u9700\u8c28\u614e\u8bc4\u4f30\u662f\u5426\u9002\u5408\u8fdb\u884c\u6813\u585e\u6216\u5916\u79d1\u624b\u672f\u3002\u82e5\u5fc3\u810f\u53d7\u7d2f\u9700\u5fc3\u810f\u79d1\u968f\u8bbf\uff0c\u4e0b\u80a2\u957f\u5ea6\u4e0d\u7b49\u6216\u5355\u4fa7\u80a5\u5927\u65f6\u9700\u9aa8\u79d1\u5e72\u9884\u3002\u90e8\u5206\u60a3\u8005\u8fd8\u8868\u73b0\u4e3a <strong>Parkes Weber\u7efc\u5408\u5f81<\/strong>\uff0c\u7279\u70b9\u662f\u6bdb\u7ec6\u8840\u7ba1\u7ea2\u6591\u3001\u5fae\u5c0fAVF\u4ee5\u53ca\u8f6f\u7ec4\u7ec7\u548c\u9aa8\u9abc\u8fc7\u5ea6\u751f\u957f\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><strong>\u6d41\u884c\u75c5\u5b66<\/strong>\uff1a\u5728\u5317\u6b27\u5730\u533a\u4f30\u8ba1\u53d1\u75c5\u7387\u4e3a1\/100,000\uff0c\u4f46\u6700\u65b0\u7814\u7a76\u663e\u793a\uff0cRASA1\u7a81\u53d8\u7684\u53d1\u75c5\u7387\u7ea6\u4e3a1\/20,000\uff0cEPHB4\u7a81\u53d8\u7ea6\u4e3a1\/12,000\u3002\u867d\u7136\u603b\u4f53\u53d1\u75c5\u7387\u8f83\u4f4e\uff0c\u4f46\u7531\u4e8e\u75c7\u72b6\u5dee\u5f02\u5927\u3001\u4e25\u91cd\u7a0b\u5ea6\u4e0d\u4e00\uff0c\u65e9\u671f\u8bca\u65ad\u548c\u7efc\u5408\u7ba1\u7406\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u5728\u5206\u5b50\u6c34\u5e73\u4e0a\uff0c<strong>RASA1<\/strong> \u901a\u8fc7\u8c03\u63a7Ras\/MAPK\u901a\u8def\u8c03\u8282\u8840\u7ba1\u53d1\u80b2\uff0c\u5176\u529f\u80fd\u4e27\u5931\u4f1a\u5bfc\u81f4\u8840\u7ba1\u5f02\u5e38\u3002<strong>EPHB4<\/strong> \u7279\u5f02\u6027\u5728\u9759\u8109\u5185\u76ae\u7ec6\u80de\u4e2d\u8868\u8fbe\uff0c\u8c03\u8282\u52a8\u9759\u8109\u5206\u5316\uff0c\u5176\u7f3a\u9677\u4e5f\u53ef\u80fd\u5bfc\u81f4\u8840\u7ba1\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>CM-AVM\u7efc\u5408\u5f81\u5728\u4e34\u5e8a\u548c\u9057\u4f20\u5b66\u4e0a\u8868\u73b0\u6781\u4e3a\u591a\u6837\uff0c\u9700\u8981\u4e2a\u4f53\u5316\u7ba1\u7406\u3002\u901a\u8fc7\u4e13\u5bb6\u7684\u65e9\u671f\u8bca\u65ad\u548c\u6070\u5f53\u5e72\u9884\uff0c\u53ef\u671b\u6539\u5584\u60a3\u8005\u751f\u6d3b\u8d28\u91cf\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<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\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%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\"><\/span>[\uff12_MEF2C]\u3000<strong>MEF2C\u76f8\u5173\u75be\u75c5<\/strong><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\u76f8\u5173\u75be\u75c5\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u75c5\uff0c\u4ee5 <strong>\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13<\/strong> \u4e3a\u4e3b\u8981\u7279\u5f81\u3002\u60a3\u8005\u8bed\u8a00\u53d1\u80b2\u548c\u8fd0\u52a8\u529f\u80fd\u4e25\u91cd\u53d7\u635f\u3002\u5927\u591a\u6570\u60a3\u8005\u51e0\u4e4e\u6ca1\u6709\u8bed\u8a00\u80fd\u529b\uff0c\u8bb8\u591a\u4eba\u65e0\u6cd5\u72ec\u7acb\u884c\u8d70\u3002\u4f4e\u808c\u5f20\u529b\u660e\u663e\uff0c\u5bfc\u81f4\u52a8\u4f5c\u548c\u59ff\u52bf\u7ef4\u6301\u56f0\u96be\u3002\u4f34\u968f\u7684\u75c7\u72b6\u5305\u62ec\u766b\u75eb\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u53ca\u89c6\u89c9\u5f02\u5e38\uff0c\u4ee5\u53ca\u7c7b\u4f3c\u81ea\u95ed\u75c7\u7684\u884c\u4e3a\uff08\u5982\u793e\u4ea4\u51cf\u5c11\u3001\u91cd\u590d\u52a8\u4f5c\uff09\u3002<\/p>\n\n\n\n<p>\u5728\u8bed\u8a00\u65b9\u9762\uff0c\u591a\u6570\u60a3\u8005\u53ea\u80fd\u8bf4\u5c11\u91cf\u5355\u8bcd\uff0c\u65e0\u6cd5\u5f62\u6210\u53e5\u5b50\u3002\u5728\u6b65\u884c\u65b9\u9762\uff0c\u7ea6\u4e00\u534a\u60a3\u8005\u65e0\u6cd5\u72ec\u7acb\u884c\u8d70\uff0c\u4f46\u501f\u52a9\u8f85\u52a9\u5de5\u5177\u6216\u4ed6\u4eba\u534f\u52a9\u65f6\u53ef\u80fd\u80fd\u591f\u884c\u8d70\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><strong>\u8bca\u65ad<\/strong> \u4f9d\u9760\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\uff0c\u5f53\u5728 <strong>MEF2C<\/strong> \u57fa\u56e0\u4e2d\u68c0\u6d4b\u5230\u6742\u5408\u81f4\u75c5\u6027\u7a81\u53d8\u65f6\u53ef\u786e\u8bca\u3002\u8be5\u57fa\u56e0\u7f16\u7801\u5173\u952e\u8f6c\u5f55\u56e0\u5b50\uff0c\u8c03\u63a7\u7ec6\u80de\u53d1\u80b2\u548c\u529f\u80fd\uff0c\u5176\u7a81\u53d8\u4f1a\u5bfc\u81f4\u4ee5\u795e\u7ecf\u7cfb\u7edf\u4e3a\u4e3b\u7684\u591a\u79cd\u75c7\u72b6\u3002<\/p>\n\n\n\n<p><strong>\u6cbb\u7597<\/strong> \u76ee\u524d\u6ca1\u6709\u6839\u6cbb\u65b9\u6cd5\uff0c\u4e3b\u8981\u4e3a\u5bf9\u75c7\u652f\u6301\u6cbb\u7597\u3002\u5305\u62ec\u53d1\u80b2\u548c\u6559\u80b2\u652f\u6301\u8ba1\u5212\u3001\u77eb\u5f62\u53ca\u7269\u7406\u6cbb\u7597\u3001\u8425\u517b\u7ba1\u7406\u3001\u80c3\u98df\u7ba1\u53cd\u6d41\u53ca\u4fbf\u79d8\u7684\u5904\u7406\u3002\u766b\u75eb\u7528\u6297\u766b\u75eb\u836f\u7269\u63a7\u5236\uff0c\u5fc3\u810f\u53ca\u773c\u90e8\u5f02\u5e38\u7531\u76f8\u5173\u4e13\u79d1\u533b\u751f\u7ba1\u7406\u3002\u82e5\u547c\u5438\u9053\u611f\u67d3\u6216\u4e2d\u8033\u708e\u53cd\u590d\u53d1\u751f\uff0c\u53ef\u8003\u8651\u4f7f\u7528\u6297\u751f\u7d20\u6216\u7f6e\u7ba1\u624b\u672f\u3002\u540c\u65f6\uff0c\u5fc3\u7406\u548c\u793e\u4f1a\u652f\u6301\u5bf9\u60a3\u8005\u53ca\u5bb6\u5c5e\u540c\u6837\u91cd\u8981\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><strong>\u9057\u4f20\u5b66<\/strong>\uff1aMEF2C\u76f8\u5173\u75be\u75c5\u4e3a <strong>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20<\/strong>\uff0c\u4f46\u5927\u591a\u6570\u75c5\u4f8b\u4e3a\u65b0\u53d1\u7a81\u53d8\u3002\u5c11\u6570\u60c5\u51b5\u4e0b\u53ef\u7531\u60a3\u75c5\u7236\u6bcd\u9057\u4f20\uff0c\u6216\u7531\u5d4c\u5408\u7a81\u53d8\u7236\u6bcd\u4f20\u9012\u3002\u82e5\u4e3a\u9057\u4f20\uff0c\u5b50\u4ee3\u60a3\u75c5\u98ce\u9669\u4e3a50%\u3002<\/p>\n\n\n\n<p>\u5178\u578b\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u4f4e\u808c\u5f20\u529b\u3001\u5582\u517b\u53ca\u6d88\u5316\u95ee\u9898\u3001\u7279\u5f81\u6027\u9762\u8c8c\uff08\u5bbd\u989d\u5934\u3001\u663e\u8457\u4eba\u4e2d\u3001\u5916\u7ffb\u4e0a\u5507\u3001\u5927\u8033\u6735\uff09\u3001\u766b\u75eb\u3001\u81ea\u95ed\u75c7\u6837\u884c\u4e3a\u3001\u7761\u7720\u969c\u788d\u3001\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u9677\uff08\u5982\u5ba4\u95f4\u9694\u7f3a\u635f\u3001\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\uff09\u3001\u89c6\u89c9\u95ee\u9898\uff08\u5982\u659c\u89c6\u3001\u5c48\u5149\u5f02\u5e38\uff09\u3002MRI\u53ef\u80fd\u663e\u793a\u80fc\u80dd\u4f53\u53d1\u80b2\u4e0d\u826f\u3001\u767d\u8d28\u53d8\u8584\u3001\u8111\u5ba4\u6269\u5927\u3001\u9ad3\u9798\u5f62\u6210\u5ef6\u8fdf\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><strong>\u5e72\u9884\u63aa\u65bd<\/strong>\uff1a\u5efa\u8bae\u65e9\u671f\u5eb7\u590d\u8ba1\u5212\uff0c\u5305\u62ec\u7269\u7406\u3001\u4f5c\u4e1a\u3001\u8bed\u8a00\u6cbb\u7597\u53ca\u5582\u517b\u652f\u6301\u3002\u8bed\u8a00\u969c\u788d\u60a3\u8005\u53ef\u4f7f\u7528 <strong>\u8f85\u52a9\u4e0e\u66ff\u4ee3\u6c9f\u901a\uff08AAC\uff09<\/strong> \u5de5\u5177\uff0c\u4ece\u56fe\u7247\u5361\u7247\u5230\u8bed\u97f3\u751f\u6210\u88c5\u7f6e\u3002\u5bf9\u4e8e\u81ea\u95ed\u75c7\u6837\u884c\u4e3a\uff0c<strong>\u5e94\u7528\u884c\u4e3a\u5206\u6790\uff08ABA\uff09<\/strong> \u7597\u6cd5\u53ef\u80fd\u6709\u6548\u3002<\/p>\n\n\n\n<p>MEF2C\u57fa\u56e0\u5728\u795e\u7ecf\u53d1\u80b2\u53ca\u80da\u80ce\u53d1\u80b2\u4e2d\u8d77\u91cd\u8981\u4f5c\u7528\uff0c\u5176\u529f\u80fd\u7f3a\u9677\u662f\u75be\u75c5\u7684\u4e3b\u8981\u539f\u56e0\u3002\u672a\u6765\u7814\u7a76\u6709\u671b\u5f00\u53d1\u65b0\u7597\u6cd5\uff0c\u76ee\u524d\u91cd\u70b9\u5728\u4e8e\u75c7\u72b6\u7f13\u89e3\u548c\u751f\u6d3b\u8d28\u91cf\u63d0\u5347\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%93_ADGRV1%E3%80%80Usher%E7%BB%BC%E5%90%88%E5%BE%812%E5%9E%8B%EF%BC%88USH2%EF%BC%89\"><\/span>[\uff13_ADGRV1]\u3000<strong>Usher\u7efc\u5408\u5f812\u578b\uff08USH2\uff09<\/strong><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\u7efc\u5408\u5f812\u578b\uff08USH2\uff09\u662f\u4e00\u79cd\u9057\u4f20\u6027\u75be\u75c5\uff0c\u4e3b\u8981\u7531\u4f4d\u4e8e <strong>5q14.3<\/strong> \u7684 <strong>ADGRV1<\/strong> \u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u3002\u5176\u4e3b\u8981\u7279\u5f81\u662f <strong>\u5148\u5929\u6027\u611f\u97f3\u795e\u7ecf\u6027\u8033\u804b<\/strong> \u548c <strong>\u8fdb\u884c\u6027\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027\uff08RP\uff09<\/strong>\u3002\u90e8\u5206\u60a3\u8005\u8fd8\u4f34\u968f\u524d\u5ead\u529f\u80fd\u969c\u788d\u3002<strong>\u4e34\u5e8a\u8868\u73b0<\/strong>\uff1aUSH2\u7684\u542c\u529b\u635f\u5931\u4e3a\u53cc\u4fa7\u6027\u611f\u97f3\u6027\u8033\u804b\uff0c\u4f4e\u9891\u8f7b\u4e2d\u5ea6\uff0c\u9ad8\u9891\u91cd\u5ea6\u81f3\u6781\u91cd\u5ea6\uff0c\u81ea\u51fa\u751f\u5373\u5b58\u5728\u3002\u542c\u529b\u56fe\u901a\u5e38\u5448\u201c\u4e0b\u503e\u578b\u201d\u3002RP\u662f\u4e00\u79cd\u53cc\u4fa7\u8fdb\u884c\u6027\u89c6\u7f51\u819c\u75c5\u53d8\uff0c\u65e9\u671f\u8868\u73b0\u4e3a\u591c\u76f2\u548c\u89c6\u91ce\u7f29\u5c0f\uff08\u96a7\u9053\u89c6\u91ce\uff09\uff0c\u6700\u7ec8\u5bfc\u81f4\u4e2d\u5fc3\u89c6\u529b\u4e0b\u964d\u3002\u75be\u75c5\u8fdb\u5c55\u901f\u5ea6\u548c\u4e25\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\u3002RP\u9996\u5148\u5f71\u54cd\u6746\u72b6\u7ec6\u80de\uff08\u6697\u5904\u89c6\u529b\uff09\uff0c\u7ee7\u800c\u5f71\u54cd\u9525\u72b6\u7ec6\u80de\uff08\u660e\u4eae\u73af\u5883\u89c6\u529b\uff09\u3002\u524d\u5ead\u529f\u80fd\u53ef\u80fd\u6b63\u5e38\u3001\u8f7b\u5ea6\u5f02\u5e38\uff0c\u6216\u4ec5\u4e9a\u4e34\u5e8a\u53d7\u635f\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><strong>\u8bca\u65ad<\/strong> \u4f9d\u9760\u542c\u529b\u5b66\u548c\u89c6\u529b\u5b66\u68c0\u67e5\uff0c\u5982\u542c\u529b\u8ba1\u3001\u7535\u751f\u7406\uff08ERG\uff09\u3001\u89c6\u91ce\u6d4b\u8bd5\u3001\u5149\u5b66\u76f8\u5e72\u65ad\u5c42\u626b\u63cf\uff08OCT\uff09\u3002\u660e\u786e\u8bca\u65ad\u9700\u53d1\u73b0 <strong>ADGRV1\u3001USH2A\u3001WHRN<\/strong> \u7684\u53cc\u7b49\u4f4d\u57fa\u56e0\u81f4\u75c5\u7a81\u53d8\u3002<strong>\u6cbb\u7597<\/strong>\uff1a\u542c\u529b\u635f\u5931\u7684\u6cbb\u7597\u5305\u62ec\u65e9\u671f\u4f69\u6234\u52a9\u542c\u5668\u5e76\u8fdb\u884c\u8bed\u8a00\u8bad\u7ec3\u3002\u5982\u52a9\u542c\u5668\u6548\u679c\u4e0d\u4f73\u6216\u8033\u804b\u4e25\u91cd\uff0c\u53ef\u8003\u8651\u4eba\u5de5\u8033\u8717\u690d\u5165\u3002RP\u6682\u65e0\u6cbb\u6108\u65b9\u6cd5\uff0c\u901a\u5e38\u91c7\u7528\u652f\u6301\u6027\u6cbb\u7597\uff0c\u6709\u7814\u7a76\u63a2\u7d22\u7ef4\u751f\u7d20A\u8865\u5145\uff08\u4f46\u9ad8\u5242\u91cf\u6709\u6bd2\uff0c\u5c24\u5176\u5b55\u671f\u9700\u907f\u514d\uff09\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><strong>\u968f\u8bbf\u7ba1\u7406<\/strong>\uff1a\u5efa\u8bae\u6bcf\u5e74\u590d\u67e5\u542c\u529b\u53ca\u52a9\u542c\u5668\/\u4eba\u5de5\u8033\u8717\u6548\u679c\uff0c20\u5c81\u540e\u6bcf\u5e74\u8fdb\u884c\u773c\u79d1\u968f\u8bbf\uff0c\u68c0\u6d4bRP\u8fdb\u5c55\u53ca\u5e76\u53d1\u75c7\uff08\u5982\u767d\u5185\u969c\u3001\u56ca\u6837\u9ec4\u6591\u6c34\u80bf\uff09\u3002<\/p>\n\n\n\n<p><strong>\u65e5\u5e38\u751f\u6d3b<\/strong>\uff1a\u9700\u6ce8\u610f\u907f\u514d\u56e0\u591c\u76f2\u548c\u96a7\u9053\u89c6\u91ce\u5bfc\u81f4\u7684\u4e8b\u6545\u3002\u591c\u95f4\u9a7e\u9a76\u5c24\u5176\u5371\u9669\uff0c\u5e94\u907f\u514d\u3002<\/p>\n\n\n\n<p><strong>\u9057\u4f20\u5b66<\/strong>\uff1aUSH2\u4e3a <strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20<\/strong>\u3002\u82e5\u7236\u6bcd\u5747\u4e3a\u643a\u5e26\u8005\uff0c\u5b50\u4ee3\u60a3\u75c5\u98ce\u9669\u4e3a25%\u3002\u9ad8\u98ce\u9669\u5bb6\u5ead\u5e94\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\uff0c\u5e76\u53ef\u8003\u8651\u4ea7\u524d\u6216\u80da\u80ce\u690d\u5165\u524d\u8bca\u65ad\u3002<strong>\u6d41\u884c\u75c5\u5b66<\/strong>\uff1aUSH2\u5728\u4eba\u7fa4\u4e2d\u7684\u53d1\u75c5\u7387\u4e3a\u4e07\u5206\u4e4b\u4e00\u5230\u51e0\u4e07\u5206\u4e4b\u4e00\uff0c\u5360\u513f\u7ae5\u8033\u804b\u76843\u20136%\uff0c\u7ea6\u5360\u542c\u89c6\u53cc\u6b8b\u768450%\u3002RP\u5e38\u5728\u9752\u6625\u671f\u540e\u51fa\u73b0\uff0c\u5bfc\u81f4\u8bca\u65ad\u5ef6\u8fdf\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>\u5728\u5206\u5b50\u6c34\u5e73\u4e0a\uff0c<strong>ADGRV1\u3001USH2A\u3001WHRN<\/strong> \u7f16\u7801\u7684\u86cb\u767d\u8d28\u7ec4\u6210 <strong>\u201cUsher\u76f8\u4e92\u4f5c\u7528\u7f51\u7edc\u201d<\/strong>\uff0c\u7ef4\u6301\u5185\u8033\u548c\u89c6\u7f51\u819c\u7684\u611f\u89c9\u795e\u7ecf\u5143\u529f\u80fd\u3002\u5176\u7834\u574f\u4f1a\u5bfc\u81f4USH2\u7684\u4e34\u5e8a\u8868\u73b0\u3002<\/p>\n\n\n\n<p>USH2\u5728\u4e34\u5e8a\u548c\u9057\u4f20\u5b66\u4e0a\u5747\u9ad8\u5ea6\u5f02\u8d28\u5316\uff0c\u9700\u8981\u7efc\u5408\u8bc4\u4f30\u548c\u4e2a\u4f53\u5316\u7ba1\u7406\u3002\u63d0\u5347\u5bf9\u8be5\u75c5\u7684\u7406\u89e3\u662f\u6539\u5584\u60a3\u8005\u53ca\u5bb6\u5ead\u751f\u6d3b\u8d28\u91cf\u7684\u5173\u952e\u3002\u65e9\u671f\u8bca\u65ad\u4e0e\u5e72\u9884\u80fd\u6700\u5927\u5316\u60a3\u8005\u6f5c\u80fd\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<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\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\n","protected":false},"excerpt":{"rendered":"\u6587\u7ae0\u6458\u8981\u6bdb\u7ec6\u8840\u7ba1\u7578\u5f62\u7efc\u5408\u5f81\u3001MEF2C\u76f8&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14_3_deletion_syndrome-proximal-2\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":86970,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-85649","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85649","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=85649"}],"version-history":[{"count":20,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85649\/revisions"}],"predecessor-version":[{"id":111541,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85649\/revisions\/111541"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/86970"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85649"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85649"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85649"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}