{"id":122548,"date":"2026-01-14T10:53:32","date_gmt":"2026-01-14T01:53:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122548"},"modified":"2026-03-27T16:27:08","modified_gmt":"2026-03-27T07:27:08","slug":"blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/","title":{"rendered":"Blepharophimosis-impaired intellectual development syndrome"},"content":{"rendered":"\n<p>Blepharophimosis-impaired intellectual development syndrome (BISS)\u306f\u3001\u7279\u5fb4\u7684\u306a\u773c\u306e\u6240\u898b\uff08\u773c\u77bc\u88c2\u72ed\u5c0f\uff09\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4e2d\u6838\u75c7\u72b6\u3068\u3059\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b74\u53f2\u7684\u306b\u306f\u300cOhdo\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u79f0\u3067\u8907\u6570\u306e\u578b\u304c\u6df7\u5728\u3057\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09\u306e\u9032\u5c55\u306b\u3088\u308a\u3001<strong>KAT6B\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002\u672c\u75be\u60a3\u306f\u3001\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u57fa\u8ee2\u79fb\u9175\u7d20\u306e\u7570\u5e38\u3068\u3044\u3046\u300c\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\uff08\u5f8c\u751f\u7684\u306a\u907a\u4f1d\u5b50\u5236\u5fa1\uff09\u300d\u306e\u4e0d\u5168\u304c\u3001\u3044\u304b\u306b\u3057\u3066\u8907\u96d1\u306a\u767a\u751f\u5b66\u7684\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u304b\u3092\u793a\u3059\u91cd\u8981\u306a\u30e2\u30c7\u30eb\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u7a3f\u3067\u306f\u3001BISS\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u304a\u3088\u3073\u985e\u4f3c\u3059\u308bKAT6B\u95a2\u9023\u75be\u60a3\u3068\u306e\u9451\u5225\u306b\u3064\u3044\u3066\u5c02\u9580\u7684\u306b\u6398\u308a\u4e0b\u3052\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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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 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\u81e8\u5e8a\u7684\u5fb4\u5019\uff1aBISS\u3092\u5b9a\u7fa9\u3059\u308b3\u5927\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E2%91%A0_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E7%9C%BC%E7%A7%91%E7%9A%84%E6%89%80%E8%A6%8B%EF%BC%88Blepharophimosis%EF%BC%89\" >\u2460 \u7279\u5fb4\u7684\u306a\u773c\u79d1\u7684\u6240\u898b\uff08Blepharophimosis\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E2%91%A1_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%A8%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E\" >\u2461 \u77e5\u7684\u969c\u5bb3\u3068\u767a\u9054\u9045\u6ede<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E7%A2%BA%E5%AE%9A\" >\u8a3a\u65ad\u306e\u78ba\u5b9a<\/a><\/li><\/ul><\/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\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#4_%E9%9B%86%E5%AD%A6%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E9%95%B7%E6%9C%9F%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97\" >4. \u96c6\u5b66\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u9577\u671f\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E5%A4%96%E7%A7%91%E7%9A%84%E4%BB%8B%E5%85%A5%EF%BC%88%E7%9C%BC%E7%A7%91%E3%83%BB%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%EF%BC%89\" >\u5916\u79d1\u7684\u4ecb\u5165\uff08\u773c\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\" >\u767a\u9054\u30fb\u7642\u80b2\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%83%A2%E3%83%8B%E3%82%BF%E3%83%AA%E3%83%B3%E3%82%B0\" >\u5408\u4f75\u75c7\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/a><\/li><\/ul><\/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\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E7%A0%94%E7%A9%B6\" >5. \u4e88\u5f8c\u3068\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u7814\u7a76<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E6%9C%80%E6%96%B0%E7%A0%94%E7%A9%B6%EF%BC%9A%E3%82%A2%E3%82%BB%E3%83%81%E3%83%AB%E5%8C%96%E7%99%82%E6%B3%95%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u6700\u65b0\u7814\u7a76\uff1a\u30a2\u30bb\u30c1\u30eb\u5316\u7642\u6cd5\u306e\u53ef\u80fd\u6027<\/a><\/li><\/ul><\/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\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%97%85%E5%9B%A0%EF%BC%9AKAT6B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%AF%E3%83%AD%E3%83%9E%E3%83%81%E3%83%B3%E4%BF%AE%E9%A3%BE%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>1. \u75c5\u56e0\uff1aKAT6B\u907a\u4f1d\u5b50\u3068\u30af\u30ed\u30de\u30c1\u30f3\u4fee\u98fe\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BISS\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u3001\u7b2c10\u67d3\u8272\u4f53\uff0810q22.2\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>KAT6B\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KAT6B%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>KAT6B\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>KAT6B\uff08\u5225\u540d\uff1aMORF\uff09\u306f\u3001\u30d2\u30b9\u30c8\u30f3H3\u306eK23\uff08\u30ea\u30b8\u30f323\uff09\u3092\u30a2\u30bb\u30c1\u30eb\u5316\u3059\u308b\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u57fa\u8ee2\u79fb\u9175\u7d20\uff08HAT\uff09*\u3067\u3059\u3002\u30d2\u30b9\u30c8\u30f3\u306e\u30a2\u30bb\u30c1\u30eb\u5316\u306f\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u3092\u7de9\u3081\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u6d3b\u6027\u5316\u3055\u305b\u308b\u91cd\u8981\u306a\u30b9\u30a4\u30c3\u30c1\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u80da\u767a\u751f\u671f\u306b\u304a\u3051\u308b\u795e\u7d4c\u5e79\u7d30\u80de\u306e\u5897\u6b96\u3084\u3001\u9aa8\u683c\u30fb\u9854\u9762\u5f62\u6210\u306b\u95a2\u308f\u308b\u591a\u6570\u306e\u907a\u4f1d\u5b50\u7fa4\u306e\u5236\u5fa1\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BC%9A%E5%88%87%E6%96%AD%E5%9E%8B%E5%A4%89%E7%95%B0%E3%81%AE%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3\"><\/span><strong>\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a\u5207\u65ad\u578b\u5909\u7570\u306e\u30d1\u30bf\u30fc\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BISS\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u306e\u591a\u304f\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u9014\u4e2d\u3067\u9014\u5207\u308c\u3066\u3057\u307e\u3046\u300c\u5207\u65ad\u578b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3084\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff09\u300d\u3067\u3059\u3002\u7279\u306bKAT6B\u907a\u4f1d\u5b50\u306e\u9060\u4f4d\uff08\u5f8c\u534a\u90e8\u5206\uff09\u3067\u5909\u7570\u304c\u8d77\u3053\u308b\u3068\u3001\u5f8c\u8ff0\u3059\u308bSay-Barber-Biesecker-Young-Simpson\u75c7\u5019\u7fa4\uff08SBBYSS\uff09\u3068\u3044\u3046\u3001\u3088\u308a\u91cd\u7be4\u306a\u75c5\u578b\u3092\u5448\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u5909\u7570\u306e\u90e8\u4f4d\u3068\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\uff08\u907a\u4f1d\u578b\u30fb\u8868\u73fe\u578b\u76f8\u95a2\uff09\u304c\u6975\u3081\u3066\u5bc6\u63a5\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E5%BE%B4%E5%80%99%EF%BC%9ABISS%E3%82%92%E5%AE%9A%E7%BE%A9%E3%81%99%E3%82%8B3%E5%A4%A7%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u81e8\u5e8a\u7684\u5fb4\u5019\uff1aBISS\u3092\u5b9a\u7fa9\u3059\u308b3\u5927\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BISS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u91cd\u8981\u306a\u81e8\u5e8a\u6240\u898b\u306f\u4ee5\u4e0b\u306e3\u3064\u306b\u96c6\u7d04\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E7%9C%BC%E7%A7%91%E7%9A%84%E6%89%80%E8%A6%8B%EF%BC%88Blepharophimosis%EF%BC%89\"><\/span><strong>\u2460 \u7279\u5fb4\u7684\u306a\u773c\u79d1\u7684\u6240\u898b\uff08Blepharophimosis\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u88c2\u72ed\u5c0f\uff1a<\/strong> \u76ee\u306e\u6a2a\u5e45\uff08\u77bc\u88c2\uff09\u304c\u7570\u5e38\u306b\u72ed\u3044\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff09\uff1a<\/strong> \u4e0a\u307e\u3076\u305f\u304c\u4e0b\u304c\u308a\u3001\u8996\u754c\u3092\u59a8\u3052\u308b\u3002<\/li>\n\n\n\n<li>\u5185\u773c\u89d2\u8d05\u76ae\uff1a \u76ee\u982d\u306e\u76ae\u819a\u304c\u88ab\u3055\u308b\u72ec\u7279\u306e\u5f62\u72b6\u3002<br>\u3053\u308c\u3089\u306f\u3001\u9854\u8c8c\u306b\u300c\u30de\u30b9\u30af\u3092\u88ab\u3063\u305f\u3088\u3046\u306a\uff08masked\uff09\u300d\u3042\u308b\u3044\u306f\u300c\u7121\u8868\u60c5\u306a\u300d\u5370\u8c61\u3092\u4e0e\u3048\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%A8%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E\"><\/span><strong>\u2461 \u77e5\u7684\u969c\u5bb3\u3068\u767a\u9054\u9045\u6ede<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c\uff1a<\/strong> \u904b\u52d5\u767a\u9054\u3088\u308a\u3082\u8a00\u8a9e\u9762\u3067\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u7642\u80b2\u7684\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%8B%AC%E7%89%B9%E3%81%AA%E9%A1%94%E8%B2%8C%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2462 \u72ec\u7279\u306a\u9854\u8c8c\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c97\u306a\u9854\u8c8c\uff1a<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u9854\u7acb\u3061\u304c\u306f\u3063\u304d\u308a\u3068\u3057\u3001\u9f3b\u6839\u90e8\u304c\u5e83\u304f\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u304c\u9577\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff1a<\/strong> \u4e73\u5150\u671f\u304b\u3089\u306e\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff08\u3050\u306b\u3083\u3050\u306b\u3083\u3057\u305f\u8d64\u3061\u3083\u3093\uff09\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38\uff1a<\/strong> \u5c0f\u6b6f\u75c7\u3084\u6b6f\u306e\u6b20\u640d\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9AKAT6B%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\uff1aKAT6B\u95a2\u9023\u75be\u60a3\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BISS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u3001\u540c\u3058KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u8d77\u3053\u308bSBBYSS\uff08Say-Barber-Biesecker-Young-Simpson syndrome\uff09\u3068\u306e\u9451\u5225\u3067\u3059\u3002\u73fe\u5728\u3001\u3053\u308c\u3089\u306f\u300cKAT6B\u95a2\u9023\u75be\u60a3\u300d\u3068\u3044\u3046\u4e00\u9023\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u9023\u7d9a\u4f53\uff09\u3068\u3057\u3066\u6349\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u75be\u60a3\u540d<\/strong><\/td><td><strong>\u5909\u7570\u90e8\u4f4d\u306e\u50be\u5411<\/strong><\/td><td><strong>\u4e3b\u306a\u7279\u5fb4\uff08BISS\u3068\u306e\u9055\u3044\uff09<\/strong><\/td><\/tr><tr><td><strong>BISS<\/strong><\/td><td>KAT6B\u907a\u4f1d\u5b50\u306e\u8fd1\u4f4d\u301c\u4e2d\u592e\u90e8<\/td><td>\u773c\u77bc\u88c2\u72ed\u5c0f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3002\u6bd4\u8f03\u7684\u75c7\u72b6\u304c\u9650\u5b9a\u7684\u3002<\/td><\/tr><tr><td><strong>SBBYSS<\/strong><\/td><td>KAT6B\u907a\u4f1d\u5b50\u306e\u9060\u4f4d\uff08C\u672b\u7aef\u5074\uff09<\/td><td>BISS\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3001<strong>\u819d\u84cb\u9aa8\uff08\u3072\u3056\u306e\u304a\u76bf\uff09\u306e\u6b20\u640d<\/strong>\u3084\u91cd\u5ea6\u306e\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u3092\u4f34\u3046\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E7%A2%BA%E5%AE%9A\"><\/span><strong>\u8a3a\u65ad\u306e\u78ba\u5b9a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u3001KAT6B\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u3057\u305f\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306eOhdo\u75c7\u5019\u7fa4\uff08MED12\u5909\u7570\u306b\u3088\u308b\u578b\u306a\u3069\uff09\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u30a8\u30d3\u30c7\u30f3\u30b9\u304c\u5fc5\u9808\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\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\/2026\/01\/3542764_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121583\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%9B%86%E5%AD%A6%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E9%95%B7%E6%9C%9F%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97\"><\/span><strong>4. \u96c6\u5b66\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u9577\u671f\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BISS\u306e\u6cbb\u7642\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u4e3b\u4f53\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u591a\u8077\u7a2e\u4ecb\u5165\u304cQOL\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%96%E7%A7%91%E7%9A%84%E4%BB%8B%E5%85%A5%EF%BC%88%E7%9C%BC%E7%A7%91%E3%83%BB%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%EF%BC%89\"><\/span><strong>\u5916\u79d1\u7684\u4ecb\u5165\uff08\u773c\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u77bc\u4e0b\u5782\u304c\u91cd\u5ea6\u3067\u8996\u899a\u767a\u9054\uff08\u5f31\u8996\u306e\u30ea\u30b9\u30af\uff09\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5834\u5408\u3001\u5e7c\u5150\u671f\u306b<strong>\u773c\u77bc\u6319\u7b4b\u77ed\u7e2e\u8853<\/strong>\u306a\u3069\u306e\u5916\u79d1\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\"><\/span><strong>\u767a\u9054\u30fb\u7642\u80b2\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong> \u8868\u51fa\u8a00\u8a9e\u304c\u7279\u306b\u82e6\u624b\u306a\u50be\u5411\u306b\u3042\u308b\u305f\u3081\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3084\u7d75\u30ab\u30fc\u30c9\u3092\u7528\u3044\u305f\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u5c0e\u5165\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u4f34\u3046\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u4f53\u5e79\u3092\u935b\u3048\u308b\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%83%A2%E3%83%8B%E3%82%BF%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u8074\uff1a<\/strong> \u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u4f8b\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3\uff1a<\/strong> \u4e73\u5150\u671f\u306e\u5438\u555c\u4e0d\u5168\u3084\u3001\u6210\u9577\u5f8c\u306e\u5480\u56bc\u56f0\u96e3\u306b\u5bfe\u3057\u3066\u6b6f\u79d1\u3084\u30ea\u30cf\u30d3\u30ea\u79d1\u3068\u306e\u9023\u643a\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E7%A0%94%E7%A9%B6\"><\/span><strong>5. \u4e88\u5f8c\u3068\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u7814\u7a76<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BISS\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u6210\u4eba\u671f\u307e\u3067\u5b89\u5b9a\u3057\u3066\u904e\u3054\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E6%96%B0%E7%A0%94%E7%A9%B6%EF%BC%9A%E3%82%A2%E3%82%BB%E3%83%81%E3%83%AB%E5%8C%96%E7%99%82%E6%B3%95%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>\u6700\u65b0\u7814\u7a76\uff1a\u30a2\u30bb\u30c1\u30eb\u5316\u7642\u6cd5\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u3001KAT6B\u306e\u3088\u3046\u306a\u30d2\u30b9\u30c8\u30f3\u4fee\u98fe\u9175\u7d20\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3001<strong>\u30d2\u30b9\u30c8\u30f3\u8131\u30a2\u30bb\u30c1\u30eb\u5316\u9175\u7d20\uff08HDAC\uff09\u963b\u5bb3\u85ac<\/strong>\u306a\u3069\u3092\u7528\u3044\u3066\u3001\u7d30\u80de\u5185\u306e\u30a2\u30bb\u30c1\u30eb\u5316\u30ec\u30d9\u30eb\u3092\u8abf\u6574\u3059\u308b\u6cbb\u7642\u7814\u7a76\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u3060\u57fa\u790e\u7814\u7a76\u6bb5\u968e\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u30d0\u30e9\u30f3\u30b9\u3092\u6b63\u5e38\u5316\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u53ef\u5851\u6027\u3092\u9ad8\u3081\u308b\u6cbb\u7642\u6cd5\u304c\u5c06\u6765\u7684\u306b\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Blepharophimosis-impaired intellectual development\u75c7\u5019\u7fa4\uff08BISS\uff09\u306f\u3001KAT6B\u3068\u3044\u3046\u7d30\u80de\u5185\u306e\u300c\u30de\u30b9\u30bf\u30fc\u30fb\u30b9\u30a4\u30c3\u30c1\u300d\u306e\u6545\u969c\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u5358\u306a\u308b\u300c\u773c\u306e\u75c5\u6c17\u300d\u3084\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u53d6\u308a\u65b9\u306e\u30a8\u30e9\u30fc\u304c\u751f\u3093\u3060\u8907\u96d1\u306a\u75c5\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u3092\u884c\u3046\u3053\u3068\u306f\u3001\u9069\u5207\u306a\u7642\u80b2\u306e\u9078\u629e\u3060\u3051\u3067\u306a\u304f\u3001SBBYSS\u306e\u3088\u3046\u306a\u91cd\u7be4\u306a\u5408\u4f75\u75c7\uff08\u819d\u84cb\u9aa8\u6b20\u640d\u306a\u3069\uff09\u306e\u6709\u7121\u3092\u4e88\u6e2c\u3057\u3001\u5099\u3048\u308b\u3053\u3068\u306b\u3082\u7e4b\u304c\u308a\u307e\u3059\u3002\u533b\u7642\u8005\u3068\u5bb6\u65cf\u304c\u3053\u306e\u7a00\u306a\u75be\u60a3\u306e\u7279\u6027\u3092\u6df1\u304f\u7406\u89e3\u3057\u3001\u9577\u671f\u7684\u306a\u8996\u70b9\u3067\u4f34\u8d70\u3059\u308b\u3053\u3068\u304c\u3001\u60a3\u8005\u306e\u81ea\u7acb\u306b\u5411\u3051\u305f\u6700\u3082\u78ba\u304b\u306a\u9053\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"Blepharophimosis-imp&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":122549,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122548","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122548","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122548"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122548\/revisions"}],"predecessor-version":[{"id":126204,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122548\/revisions\/126204"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/122549"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122548"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122548"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122548"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}