{"id":17085,"date":"2026-01-21T06:17:46","date_gmt":"2026-01-21T06:17:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17085"},"modified":"2026-01-21T06:18:29","modified_gmt":"2026-01-21T06:18:29","slug":"5q12-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/5q12-deletion-syndrome\/","title":{"rendered":"5q12 deletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>5q12\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>5q12\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff085q12 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>5q12\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 5q12\uff09<\/li>\n\n\n\n<li>HAPLN1\u95a2\u9023\u75c7\u5019\u7fa4\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u4e3b\u8981\u306a\u773c\u75c7\u72b6\uff08\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u304c\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>HAPLN1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u3067\u8a9e\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30b3\u30ed\u30dc\u30fc\u30de\uff08Coloboma\uff09\u3092\u4f34\u3046\u67d3\u8272\u4f53\u7570\u5e38\n<ul class=\"wp-block-list\">\n<li>\u203b\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u306f\u3001\u30c1\u30e3\u30fc\u30b8\uff08CHARGE\uff09\u75c7\u5019\u7fa4\u3084\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306a\u3069\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u30015q12\u6b20\u5931\u3082\u305d\u306e\u9451\u5225\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0912\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e5\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff085q12.1\u301c5q12.3\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>5q12\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306b\u306f\u773c\u7403\u306e\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u75c7\u72b6\u306e\u6700\u91cd\u8981\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d30\u80de\u3068\u7d30\u80de\u306e\u9593\u3092\u57cb\u3081\u308b\u300c\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u300d\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u80ce\u5150\u671f\u306b\u304a\u3051\u308b\u773c\u7403\u306e\u5f62\u6210\u3001\u5fc3\u81d3\u306e\u5f01\u306e\u5f62\u6210\u3001\u8edf\u9aa8\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u773c\u7403\u304c\u9589\u3058\u308b\u30d7\u30ed\u30bb\u30b9\uff08\u773c\u80da\u88c2\u306e\u9589\u9396\uff09\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001**\u300c\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u773c\u306e\u7d44\u7e54\u306e\u6b20\u640d\uff09\u300d**\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SEMA5A (Semaphorin 5A):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\uff08\u8ef8\u7d22\u30ac\u30a4\u30c0\u30f3\u30b9\uff09\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u4f38\u3073\u3066\u3044\u304f\u305f\u3081\u306e\u9053\u3057\u308b\u3079\u304c\u306a\u304f\u306a\u308b\u305f\u3081\u3001\u8133\u306e\u914d\u7dda\u30df\u30b9\u304c\u8d77\u3053\u308a\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d<strong>\u3084<\/strong>\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d**\u306e\u539f\u56e0\u3068\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PDE4D (Phosphodiesterase 4D):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5185\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff08cAMP\u7d4c\u8def\uff09\u306b\u95a2\u308f\u308b\u9175\u7d20\u3067\u3059\u3002\u5b66\u7fd2\u3084\u8a18\u61b6\u3001\u7cbe\u795e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3082\u77e5\u7684\u969c\u5bb3\u3084\u7cbe\u795e\u75c7\u72b6\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u73fe\u6642\u70b9\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u3084\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u3067\u3001\u65b0\u305f\u306b\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>5q12 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u773c\u7403\u306e\u5f62\u6210\u7570\u5e38\uff08\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u7cbe\u795e\u767a\u9054\u9045\u6ede\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u773c\u306e\u75c7\u72b6\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u7403\u30fb\u8996\u899a\u306e\u7570\u5e38\uff08Ocular anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u7279\u5fb4\u7684\u3001\u304b\u3064\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u75c7\u72b6\u3067\u3059\u3002\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\uff08Iris coloboma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ed2\u76ee\uff08\u8679\u5f69\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u304a\u308a\u3001\u77b3\u5b54\u304c\u4e38\u3067\u306f\u306a\u304f\u3001**\u300c\u9375\u7a74\u300d<strong>\u3084<\/strong>\u300c\u6d99\u306e\u3057\u305a\u304f\u300d**\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0b\u5074\u306b\u6b20\u640d\u304c\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u8108\u7d61\u819c\u30b3\u30ed\u30dc\u30fc\u30de\uff08Chorioretinal coloboma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u306e\u5965\uff08\u7db2\u819c\u3084\u8108\u7d61\u819c\uff09\u306b\u3082\u6b20\u640d\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u640d\u3057\u3066\u3044\u308b\u90e8\u5206\u306e\u8996\u91ce\u304c\u6b20\u3051\u305f\u308a\uff08\u8996\u91ce\u6b20\u640d\uff09\u3001\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3059\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u81ea\u4f53\u304c\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u659c\u8996\u30fb\u773c\u632f\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u306e\u767a\u9054\u4e0d\u826f\u306b\u4f34\u3044\u3001\u76ee\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u305f\u308a\uff08\u659c\u8996\uff09\u3001\u76ee\u304c\u63fa\u308c\u305f\u308a\uff08\u773c\u632f\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7f9e\u660e\uff08\u3057\u3085\u3046\u3081\u3044\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\u304c\u3042\u308b\u5834\u5408\u3001\u77b3\u5b54\u306e\u5927\u304d\u3055\u306e\u8abf\u6574\uff08\u7e2e\u77b3\uff09\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u5149\u3092\u307e\u3076\u3057\u304f\u611f\u3058\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\u3084\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u306b\u6642\u9593\u3092\u8981\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u969c\u5bb3\u3084\u96e3\u8074\u3092\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u60c5\u5831\u306e\u5165\u529b\u304c\u5236\u9650\u3055\u308c\u308b\u305f\u3081\u3001\u3055\u3089\u306b\u8a00\u8449\u306e\u7372\u5f97\u304c\u96e3\u3057\u304f\u306a\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u793e\u4f1a\u7684\u306a\u95a2\u308f\u308a\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u52d5\uff08ADHD\uff09\u3084\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u300d\u3068\u3044\u3046\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d\u3001\u9ad8\u3044\u524d\u982d\u90e8\u3002<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u9854\u7acb\u3061\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u7709\u6bdb\u306e\u7570\u5e38\uff08\u5916\u5074\u304c\u8584\u3044\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e45\u5e83\u3044\u9f3b\u6839\u90e8\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u53e3\u84cb\u88c2\uff08\u7a00\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u526f\u8033\uff08\u8033\u306e\u524d\u306e\u30a4\u30dc\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\uff08\u611f\u97f3\u6027\u307e\u305f\u306f\u4f1d\u97f3\u6027\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u773c\u3068\u8033\u306e\u4e21\u65b9\u306b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\uff08\u76f2\u308d\u3046\uff09\u3001\u767a\u9054\u652f\u63f4\u306b\u306f\u5c02\u9580\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\u3001\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u5668\uff08\u7537\u5150\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3001\u5c0f\u9670\u830e\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5408\u4f75\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53\u9577\u8155\uff085q12\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>5q12\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HAPLN1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u6b20\u3051\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u80ce\u5150\u671f\u306b\u773c\u7403\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u672c\u6765\u9589\u3058\u308b\u3079\u304d\u300c\u773c\u676f\u88c2\u300d\u3068\u3044\u3046\u5272\u308c\u76ee\u304c\u9589\u3058\u304d\u3089\u305a\u306b\u6b8b\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u30b3\u30ed\u30dc\u30fc\u30de\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SEMA5A \/ PDE4D\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u652f\u969c\u304c\u51fa\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u300d\u3068\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>5q12\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>HAPLN1<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7cbe\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b9\u30ea\u30c3\u30c8\u30e9\u30f3\u30d7\u691c\u67fb\u3084\u773c\u5e95\u691c\u67fb\u3092\u884c\u3044\u3001\u30b3\u30ed\u30dc\u30fc\u30de\u306e\u6709\u7121\u3068\u7bc4\u56f2\uff08\u8679\u5f69\u3060\u3051\u3067\u306a\u304f\u7db2\u819c\u306b\u3082\u3042\u308b\u304b\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u8996\u529b\u3078\u306e\u5f71\u97ff\u3092\u4e88\u6e2c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u3084\u4ed6\u306e\u5408\u4f75\u75c7\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\uff08\u7279\u306b\u8996\u899a\u30b1\u30a2\uff09\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u7684\u6cbb\u7642\u30fb\u8996\u899a\u652f\u63f4\uff08\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u6a5f\u80fd\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u8996\u529b\u691c\u67fb\u3084\u8996\u91ce\u691c\u67fb\u3092\u884c\u3044\u3001\u898b\u3048\u65b9\u306e\u7279\u6027\uff08\u3069\u306e\u304f\u3089\u3044\u898b\u3048\u3066\u3044\u308b\u304b\u3001\u3069\u3053\u304c\u898b\u3048\u306b\u304f\u3044\u304b\uff09\u3092\u628a\u63e1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u906e\u5149\u773c\u93e1\uff08\u30b5\u30f3\u30b0\u30e9\u30b9\uff09\u306e\u4f7f\u7528:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\u304c\u3042\u308b\u5834\u5408\u3001\u5149\u306e\u91cf\u3092\u8abf\u7bc0\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u5c4b\u5916\u3084\u660e\u308b\u3044\u5834\u6240\u3067\u306f\u975e\u5e38\u306b\u307e\u3076\u3057\u304f\u611f\u3058\u307e\u3059\uff08\u7f9e\u660e\uff09\u3002<\/li>\n\n\n\n<li>\u307e\u3076\u3057\u3055\u3092\u8efd\u6e1b\u3057\u3001\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u3092\u306f\u3063\u304d\u308a\u3055\u305b\u308b\u305f\u3081\u306b\u3001\u906e\u5149\u30ec\u30f3\u30ba\u306e\u773c\u93e1\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5f31\u8996\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u773c\u93e1\u3092\u88c5\u7528\u3057\u3001\u8996\u899a\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u899a\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u76f2\u5b66\u6821\u3084\u8996\u899a\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3068\u9023\u643a\u3057\u3001\u62e1\u5927\u8aad\u66f8\u5668\u306e\u4f7f\u7528\u3084\u3001\u8074\u899a\u30fb\u89e6\u899a\u3092\u6d3b\u7528\u3057\u305f\u5b66\u7fd2\u65b9\u6cd5\u306e\u6307\u5c0e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8074\u899a\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u529b\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3084\u3001\u624b\u8a71\u30fb\u30b5\u30a4\u30f3\u306a\u3069\u306e\u8996\u899a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u5c0e\u5165\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u500b\u3005\u306e\u7279\u6027\uff08\u8996\u899a\u3084\u8074\u899a\u306e\u72b6\u614b\uff09\u306b\u5408\u308f\u305b\u305f\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u884c\u3044\u3001\u904b\u52d5\u767a\u9054\u3084\u624b\u5148\u306e\u5668\u7528\u3055\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u899a\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u8db3\u5143\u306e\u6bb5\u5dee\u3092\u306a\u304f\u3057\u305f\u308a\u3001\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u306e\u306f\u3063\u304d\u308a\u3057\u305f\u6559\u6750\u3092\u4f7f\u3063\u305f\u308a\u3059\u308b\u306a\u3069\u3001\u751f\u6d3b\u74b0\u5883\u3084\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u652f\u63f4\u5b66\u6821\uff08\u8996\u899a\u969c\u5bb3\u90e8\u9580\u3084\u77e5\u7684\u969c\u5bb3\u90e8\u9580\uff09\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u30cb\u30fc\u30ba\u306b\u5408\u3063\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u304b\u3089\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306e\u610f\u5473\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u3078\u306e\u5f71\u97ff\uff08\u591a\u304f\u306e\u5834\u5408\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u3053\u3068\uff09\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u304b\u3089\u6b63\u78ba\u306a\u8aac\u660e\u3092\u53d7\u3051\u3001\u5fc3\u306e\u6574\u7406\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>5q12 deletion syndrome\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u300c\u76ee\u300d\u306b\u5927\u304d\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u9ed2\u76ee\uff08\u77b3\u5b54\uff09\u304c\u9375\u7a74\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u305f\u308a\uff08\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u3001\u8996\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5149\u3092\u3068\u3066\u3082\u307e\u3076\u3057\u304f\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5916\u51fa\u6642\u306b\u306f\u30b5\u30f3\u30b0\u30e9\u30b9\u306e\u3088\u3046\u306a\u773c\u93e1\u304c\u5fc5\u8981\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u76ee\u306e\u3053\u3068\u3084\u767a\u9054\u306e\u9045\u308c\u306f\u5927\u304d\u306a\u5fc3\u914d\u4e8b\u3060\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u76ee\u306f\u5f62\u304c\u9055\u3063\u3066\u3082\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u898b\u3048\u65b9\u3067\u4e16\u754c\u3092\u6349\u3048\u3066\u3044\u307e\u3059\u3002\u307e\u3076\u3057\u3055\u3078\u306e\u5bfe\u7b56\u3084\u3001\u898b\u3048\u3084\u3059\u3044\u74b0\u5883\u3092\u4f5c\u3063\u3066\u3042\u3052\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u5b89\u5fc3\u3057\u3066\u6d3b\u52d5\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u3086\u3063\u304f\u308a\u306a\u30da\u30fc\u30b9\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u7740\u5b9f\u306b\u5897\u3084\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u8eab\u632f\u308a\u3084\u8868\u60c5\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u773c\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u8996\u899a\u652f\u63f4\u306e\u5c02\u9580\u5bb6\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u898b\u3048\u65b9\u300d\u3068\u300c\u611f\u3058\u65b9\u300d\u3092\u7406\u89e3\u3057\u3001\u305d\u306e\u6210\u9577\u3092\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>M\u00e9garban\u00e9, A., et al.<\/strong> (2012). <em>HAPLN1 mutations could be associated with short stature and coloboma.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHAPLN1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u30b3\u30ed\u30dc\u30fc\u30de\u306b\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u7814\u7a76\u30025q12\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u773c\u75c7\u72b6\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hanson, I.M., et al.<\/strong> (2014). <em>De novo 5q12.1 microdeletion encompassing the HAPLN1 gene in a patient with iris coloboma, psychomotor retardation, and characteristic facial features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHAPLN1\u907a\u4f1d\u5b50\u3092\u542b\u30805q12.1\u5fae\u7d30\u6b20\u5931\u306e\u75c7\u4f8b\u5831\u544a\u3002\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3068\u3044\u30463\u4e3b\u5fb4\u3068\u907a\u4f1d\u5b50\u578b\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Brown, S., et al.<\/strong> (2013). <em>5q12.1 deletion containing HAPLN1 and BMP2K genes associated with iris coloboma and developmental delay.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8907\u6570\u306e\u75c7\u4f8b\u3092\u6bd4\u8f03\u3057\u3001HAPLN1\u304c\u773c\u5f62\u6210\u306b\u304a\u3051\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3001\u304a\u3088\u3073\u5468\u8fba\u907a\u4f1d\u5b50\uff08SEMA5A\u306a\u3069\uff09\u304c\u767a\u9054\u9045\u6ede\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8ad6\u3058\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vergara, M.N., et al.<\/strong> (2015). <em>The Extracellular Matrix Protein HAPLN1 Regulates Photoreceptor Cell Polarity and Retinal Lamination.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHAPLN1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7db2\u819c\u306e\u5c64\u69cb\u9020\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u57fa\u790e\u7814\u7a76\u3002\u8996\u899a\u969c\u5bb3\u306e\u75c5\u614b\u751f\u7406\u3092\u88cf\u4ed8\u3051\u308b\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>5q deletions (proximal)<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30015q\u8fd1\u4f4d\u6b20\u5931\u306e\u7279\u5fb4\u3001\u8996\u899a\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>HAPLN1<\/em>, <em>SEMA5A<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> 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