{"id":122497,"date":"2026-01-14T09:37:25","date_gmt":"2026-01-14T00:37:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122497"},"modified":"2026-03-27T14:33:30","modified_gmt":"2026-03-27T05:33:30","slug":"atelosteogenesis-type-1-flnb-mutation","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/","title":{"rendered":"Atelosteogenesis, type I"},"content":{"rendered":"\n<p>Atelosteogenesis, type I (AO1)\u306f\u3001\u80ce\u5150\u671f\u304b\u3089\u65b0\u751f\u5150\u671f\u306b\u304b\u3051\u3066\u9855\u8457\u306a\u9aa8\u683c\u5f62\u6210\u4e0d\u5168\u3092\u793a\u3059\u3001\u975e\u5e38\u306b\u7a00\u306a\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3067\u3059\u3002\u75be\u60a3\u540d\u306e\u300cAtelo-\u300d\u306f\u30ae\u30ea\u30b7\u30e3\u8a9e\u3067\u300c\u4e0d\u5b8c\u5168\u300d\u3092\u610f\u5473\u3057\u3001\u305d\u306e\u540d\u306e\u901a\u308a\u3001\u7279\u5b9a\u306e\u7ba1\u72b6\u9aa8\uff08\u7279\u306b\u4e0a\u8155\u9aa8\u3084\u5927\u817f\u9aa8\uff09\u304c\u8457\u3057\u304f\u77ed\u7e2e\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\uff08\u4e0d\u5168\uff09\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u306f\u3001\u30d5\u30a3\u30e9\u30df\u30f3B\uff08FLNB\uff09\u3068\u3044\u3046\u7d30\u80de\u9aa8\u683c\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001AO1\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u81e8\u5e8a\u30fb\u753b\u50cf\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8\u3001\u305d\u3057\u3066\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u77e5\u898b\u3092\u5c02\u9580\u7684\u306b\u8a73\u8aac\u3057\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 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\/atelosteogenesis-type-1-flnb-mutation\/#1_%E9%81%BA%E4%BC%9D%E7%9A%84%E5%8E%9F%E5%9B%A0%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9AFLNB%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0\" >1. \u907a\u4f1d\u7684\u539f\u56e0\u3068\u5206\u5b50\u75c5\u614b\uff1aFLNB\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7372\u5f97\u5909\u7570<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%EF%BC%88Filamin_B%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u30d5\u30a3\u30e9\u30df\u30f3B\uff08Filamin B\uff09\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-function%EF%BC%89%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >\u6a5f\u80fd\u7372\u5f97\u5909\u7570\uff08Gain-of-function\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><\/li><\/ul><\/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\/atelosteogenesis-type-1-flnb-mutation\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A8%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b<\/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\/atelosteogenesis-type-1-flnb-mutation\/#%E2%91%A0_%E5%A4%96%E8%A6%8B%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u2460 \u5916\u898b\u7684\u7279\u5fb4<\/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\/atelosteogenesis-type-1-flnb-mutation\/#%E2%91%A1_%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%EF%BC%89%E7%89%B9%E5%BE%B4\" >\u2461 \u653e\u5c04\u7dda\u5b66\u7684\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#3_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9AFLNB%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\" >3. \u9451\u5225\u8a3a\u65ad\uff1aFLNB\u95a2\u9023\u75be\u60a3\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#4_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%AE%A1%E7%90%86%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%80%AB%E7%90%86%E7%9A%84%E3%83%BB%E5%8C%BB%E5%AD%A6%E7%9A%84%E5%81%B4%E9%9D%A2\" >4. \u4e88\u5f8c\u3068\u7ba1\u7406\u306b\u304a\u3051\u308b\u502b\u7406\u7684\u30fb\u533b\u5b66\u7684\u5074\u9762<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%E4%BA%88%E5%BE%8C%E3%82%92%E5%B7%A6%E5%8F%B3%E3%81%99%E3%82%8B%E8%A6%81%E5%9B%A0\" >\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u8981\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%E5%91%A8%E7%94%A3%E6%9C%9F%E3%83%BB%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u5468\u7523\u671f\u30fb\u65b0\u751f\u5150\u671f\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%A0%94%E7%A9%B6%E3%81%AE%E6%84%8F%E7%BE%A9%E3%81%A8%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u7d50\u8ad6\uff1a\u7814\u7a76\u306e\u610f\u7fa9\u3068\u6b21\u4e16\u4ee3\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%9A%84%E5%8E%9F%E5%9B%A0%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9AFLNB%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0\"><\/span><strong>1. \u907a\u4f1d\u7684\u539f\u56e0\u3068\u5206\u5b50\u75c5\u614b\uff1aFLNB\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7372\u5f97\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Atelosteogenesis, type I\u306e\u539f\u56e0\u306f\u30013\u756a\u67d3\u8272\u4f53\uff083p14.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>FLNB\uff08\u30d5\u30a3\u30e9\u30df\u30f3B\uff09\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%EF%BC%88Filamin_B%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u30d5\u30a3\u30e9\u30df\u30f3B\uff08Filamin B\uff09\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d5\u30a3\u30e9\u30df\u30f3B\u306f\u3001\u7d30\u80de\u5185\u306e\u300c\u30a2\u30af\u30c1\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u7db2\u76ee\u72b6\u306b\u67b6\u6a4b\u3057\u3001\u7d30\u80de\u9aa8\u683c\u3092\u5b89\u5b9a\u3055\u305b\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u8edf\u9aa8\u7d30\u80de\uff08chondrocytes\uff09\u306b\u304a\u3044\u3066\u3001FLNB\u306f\u7d30\u80de\u306e\u79fb\u52d5\u3001\u5206\u5316\u3001\u304a\u3088\u3073\u8edf\u9aa8\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u306e\u5f62\u6210\u3092\u9069\u5207\u306b\u5236\u5fa1\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u30cf\u30d6\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-function%EF%BC%89%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u5909\u7570\uff08Gain-of-function\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>AO1\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u306e\u591a\u304f\u306f\u3001FLNB\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7279\u5b9a\u306e\u30c9\u30e1\u30a4\u30f3\uff08\u7279\u306b\u30a2\u30af\u30c1\u30f3\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u3084\u518d\u69cb\u6210\u30c9\u30e1\u30a4\u30f3\uff09\u306b\u304a\u3051\u308b\u70b9\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u614b:<\/strong> \u5909\u7570\u306b\u3088\u308a\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u6d3b\u6027\u304c\u7570\u5e38\u306b\u5f37\u307e\u308b\uff08\u3042\u308b\u3044\u306f\u5206\u89e3\u3055\u308c\u306b\u304f\u304f\u306a\u308b\uff09\u3053\u3068\u3067\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5206\u5316\u30d7\u30ed\u30bb\u30b9\u304c\u904e\u5270\u306b\u6291\u5236\u3055\u308c\u305f\u308a\u3001\u65e9\u671f\u306b\u505c\u6b62\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d50\u679c:<\/strong> \u672c\u6765\u9aa8\u306b\u306a\u308b\u3079\u304d\u8edf\u9aa8\u30e2\u30c7\u30eb\u304c\u9069\u5207\u306b\u5f62\u6210\u3055\u308c\u305a\u3001\u9aa8\u306e\u300c\u9060\u4f4d\u90e8\u300d\u3084\u300c\u5168\u4f53\u300d\u304c\u6b20\u640d\u30fb\u77ed\u7e2e\u3059\u308b\u3068\u3044\u3046\u3001AO1\u7279\u6709\u306e\u6240\u898b\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\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%E7%89%B9%E5%BE%B4%E3%81%A8%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>AO1\u306f\u3001\u51fa\u751f\u6642\uff08\u3042\u308b\u3044\u306f\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\uff09\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u7279\u5fb4\u7684\u306a\u5916\u898b\u3068\u9aa8\u683c\u50cf\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E5%A4%96%E8%A6%8B%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2460 \u5916\u898b\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8457\u660e\u306a\u56db\u80a2\u77ed\u7e2e:<\/strong> \u7279\u306b\u8155\u3084\u592a\u3082\u3082\u306e\u8fd1\u4f4d\u90e8\u304c\u77ed\u3044\u300c\u6839\u8fd1\u4f4d\u578b\uff08rhizomelic\uff09\u300d\u306e\u77ed\u7e2e\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong> \u524d\u984d\u90e8\u306e\u7a81\u51fa\u3001\u9f3b\u6839\u90e8\u306e\u5e73\u5766\u5316\u3001\u5c0f\u984e\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u62d8\u7e2e:<\/strong> \u8098\u3084\u819d\u306e\u95a2\u7bc0\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u56fa\u5b9a\u3055\u308c\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u8131\u81fc\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\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_%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%EF%BC%89%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2461 \u653e\u5c04\u7dda\u5b66\u7684\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>AO1\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u6c7a\u5b9a\u7684\u306a\u306e\u306f\u3001\u4ee5\u4e0b\u306e\u9aa8\u683c\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0a\u8155\u9aa8\u306e\u4e0d\u5168:<\/strong> \u4e0a\u8155\u9aa8\u304c\u300c\u9060\u4f4d\u306b\u5411\u304b\u3063\u3066\u7d30\u304f\u306a\u308b\u300d\u307e\u305f\u306f\u300c\u4e09\u89d2\u5f62\uff08club-shaped\uff09\u300d\u306b\u898b\u3048\u3001\u9060\u4f4d\u90e8\u304c\u307b\u3068\u3093\u3069\u9aa8\u5316\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u5927\u817f\u9aa8\u306e\u77ed\u7e2e:<\/strong> \u5927\u817f\u9aa8\u3082\u540c\u69d8\u306b\u8457\u3057\u304f\u77ed\u304f\u3001\u7279\u5fb4\u7684\u306a\u5f62\u72b6\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u690e\u4f53\u306e\u7570\u5e38:<\/strong> \u690e\u4f53\u304c\u6b63\u9762\u50cf\u3067\u5de6\u53f3\u306b\u5206\u304b\u308c\u3066\u3044\u308b\u300c\u8776\u5f62\u690e\uff08butterfly vertebrae\uff09\u300d\u3084\u3001\u5074\u9762\u50cf\u3067\u306e\u6241\u5e73\u690e\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8153\u9aa8\u306e\u6b20\u640d\/\u77ed\u7e2e:<\/strong> \u4e0b\u817f\u306e\u9aa8\u306e\u3046\u3061\u3001\u5916\u5074\u306e\u8153\u9aa8\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9AFLNB%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. \u9451\u5225\u8a3a\u65ad\uff1aFLNB\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>FLNB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001AO1\u4ee5\u5916\u306b\u3082\u8907\u6570\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5206\u985e\u3055\u308c\u308b\u300cFLNB\u95a2\u9023\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u300d\u3092\u5f62\u6210\u3057\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>\u91cd\u75c7\u5ea6<\/strong><\/td><td><strong>\u4e3b\u306a\u7279\u5fb4<\/strong><\/td><\/tr><tr><td><strong>Atelosteogenesis, type I (AO1)<\/strong><\/td><td><strong>\u81f4\u6b7b\u6027<\/strong><\/td><td>\u6700\u3082\u91cd\u75c7\u3002\u5e83\u7bc4\u306a\u9aa8\u6b20\u640d\u3001\u8776\u5f62\u690e\u3001\u80f8\u90ed\u4e0d\u5168\u3002<\/td><\/tr><tr><td><strong>Atelosteogenesis, type III (AO3)<\/strong><\/td><td>\u975e\u81f4\u6b7b\u6027\u301c\u751f\u5b58\u53ef\u80fd<\/td><td>AO1\u306b\u4f3c\u308b\u304c\u3001\u9aa8\u5316\u306e\u7a0b\u5ea6\u304c\u3084\u3084\u826f\u597d\u3002\u6c17\u9053\u7ba1\u7406\u304c\u9375\u3002<\/td><\/tr><tr><td><strong>Larsen\u75c7\u5019\u7fa4<\/strong><\/td><td>\u751f\u5b58\u53ef\u80fd<\/td><td>\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3002\u9aa8\u306e\u6b20\u640d\u306f\u76ee\u7acb\u305f\u306a\u3044\u3002<\/td><\/tr><tr><td><strong>Boomerang dysplasia<\/strong><\/td><td><strong>\u81f4\u6b7b\u6027<\/strong><\/td><td>AO1\u3088\u308a\u3055\u3089\u306b\u91cd\u75c7\u3002\u9577\u7ba1\u72b6\u9aa8\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u72b6\u306b\u5f2f\u66f2\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>\u80ce\u5150\u671f\u306b\u306f\u8d85\u97f3\u6ce2\u65ad\u5c64\u6cd5\uff08\u30a8\u30b3\u30fc\uff09\u3084\u80ce\u5150CT\u3067\u9aa8\u683c\u5f62\u614b\u3092\u8a55\u4fa1\u3057\u3001\u51fa\u751f\u5f8c\u306b\u306f\u5168\u8eab\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\uff08\u30b9\u30ad\u30e3\u30ce\u30b0\u30e9\u30e0\uff09\u3068<strong>FLNB\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/12\/4191115_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120591\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%AE%A1%E7%90%86%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%80%AB%E7%90%86%E7%9A%84%E3%83%BB%E5%8C%BB%E5%AD%A6%E7%9A%84%E5%81%B4%E9%9D%A2\"><\/span><strong>4. \u4e88\u5f8c\u3068\u7ba1\u7406\u306b\u304a\u3051\u308b\u502b\u7406\u7684\u30fb\u533b\u5b66\u7684\u5074\u9762<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b8b\u5ff5\u306a\u304c\u3089\u3001AO1\u306f\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u300c\u81f4\u6b7b\u6027\uff08lethal\uff09\u300d\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%82%92%E5%B7%A6%E5%8F%B3%E3%81%99%E3%82%8B%E8%A6%81%E5%9B%A0\"><\/span><strong>\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u8981\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e3b\u306a\u6b7b\u56e0\u306f\u3001\u6975\u7aef\u306a\u5c0f\u80f8\u90ed\u306b\u3088\u308b<strong>\u80ba\u4f4e\u5f62\u6210<\/strong>\u3068\u3001\u305d\u308c\u306b\u4f34\u3046\u547c\u5438\u4e0d\u5168\u3067\u3059\u3002\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u91cd\u5ea6\u306e\u547c\u5438\u969c\u5bb3\u3092\u5448\u3057\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u65b0\u751f\u5150\u671f\u3092\u8d8a\u3048\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%A8%E7%94%A3%E6%9C%9F%E3%83%BB%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u5468\u7523\u671f\u30fb\u65b0\u751f\u5150\u671f\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7de9\u548c\u30b1\u30a2\u3068\u30b3\u30f3\u30d5\u30a9\u30fc\u30c8\u30b1\u30a2:<\/strong> \u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u904e\u5ea6\u306a\u4fb5\u8972\u7684\u6cbb\u7642\u3092\u907f\u3051\u3001\u8d64\u3061\u3083\u3093\u3068\u5bb6\u65cf\u304c\u7a4f\u3084\u304b\u306a\u6642\u9593\u3092\u904e\u3054\u305b\u308b\u3088\u3046\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u3053\u3068\u304c\u6700\u512a\u5148\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u652f\u63f4:<\/strong> \u7523\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66\u3001\u305d\u3057\u3066\u30b0\u30ea\u30fc\u30d5\u30b1\u30a2\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3001\u5bb6\u65cf\u306e\u610f\u601d\u6c7a\u5b9a\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%A0%94%E7%A9%B6%E3%81%AE%E6%84%8F%E7%BE%A9%E3%81%A8%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u7d50\u8ad6\uff1a\u7814\u7a76\u306e\u610f\u7fa9\u3068\u6b21\u4e16\u4ee3\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Atelosteogenesis, type I\u306f\u3001\u751f\u547d\u306e\u9aa8\u683c\u3092\u5f62\u4f5c\u308b\u30d7\u30ed\u30bb\u30b9\u306e\u8907\u96d1\u3055\u3068\u3001\u30d5\u30a3\u30e9\u30df\u30f3B\u3068\u3044\u3046\u5358\u4e00\u306e\u5206\u5b50\u304c\u3044\u304b\u306b\u5927\u304d\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u308b\u304b\u3092\u79c1\u305f\u3061\u306b\u6559\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001FLNB\u306e\u6a5f\u80fd\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u89e3\u660e\u3059\u308b\u7814\u7a76\u306f\u3001AO1\u3060\u3051\u3067\u306a\u304f\u3001\u751f\u5b58\u53ef\u80fd\u306aLarsen\u75c7\u5019\u7fa4\u306a\u3069\u306e\u6cbb\u7642\u6cd5\u958b\u767a\u3001\u3055\u3089\u306b\u306f\u4e00\u822c\u7684\u306a\u9aa8\u7c97\u9b06\u75c7\u3084\u9aa8\u6298\u6cbb\u7652\u306e\u7814\u7a76\u306b\u3082\u5bc4\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u8a3a\u65ad\u3092\u884c\u3046\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u300c\u306a\u305c\u3053\u308c\u304c\u8d77\u304d\u305f\u306e\u304b\u300d\u3068\u3044\u3046\u554f\u3044\u306b\u5fdc\u3048\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u9069\u5207\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff08\u518d\u767a\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u4f4e\u3044\u3053\u3068\u306e\u8aac\u660e\u306a\u3069\uff09\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u306e\u3001\u4e0d\u53ef\u6b20\u306a\u30b9\u30c6\u30c3\u30d7\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":117048,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122497","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\/122497","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=122497"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122497\/revisions"}],"predecessor-version":[{"id":126192,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122497\/revisions\/126192"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/117048"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122497"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122497"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122497"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}