{"id":17236,"date":"2026-01-22T00:16:22","date_gmt":"2026-01-22T00:16:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17236"},"modified":"2026-01-22T00:47:40","modified_gmt":"2026-01-22T00:47:40","slug":"axenfeld-rieger-syndrome-type-3-rieg3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/axenfeld-rieger-syndrome-type-3-rieg3\/","title":{"rendered":"Axenfeld-Rieger syndrome, type 3 (RIEG3)"},"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>\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\uff08Axenfeld-Rieger syndrome; ARS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u3001\u907a\u4f1d\u5b50\u578b\uff081\u578b\u304b3\u578b\u304b\uff09\u3092\u533a\u5225\u305b\u305a\u3001\u7dcf\u79f0\u3068\u3057\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>FOXC1\u95a2\u9023\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\uff08FOXC1-related Axenfeld-Rieger syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u305f\u3001\u3088\u308a\u6b63\u78ba\u306a\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u8679\u5f69\u9685\u89d2\u5f62\u6210\u4e0d\u5168\u75c7 1\u578b\uff08Iridogoniodysgenesis, type 1; IRID1\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u8679\u5f69\u3068\u9685\u89d2\u306e\u7570\u5e38\u304c\u4e3b\u5fb4\u3067\u3042\u308b\u5834\u5408\u306e\u8a3a\u65ad\u540d\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b66\u7684\u306b\u306fRIEG3\u3068\u540c\u3058\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>6p25\u6b20\u5931\u75c7\u5019\u7fa4 \/ 6p25\u91cd\u8907\u75c7\u5019\u7fa4\n<ul class=\"wp-block-list\">\n<li>\u203bRIEG3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f53\u9818\u57df\u306e\u7570\u5e38\u306b\u3088\u308b\u75be\u60a3\u7fa4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aAxenfeld-Rieger syndrome, type 1 (RIEG1)\n<ul class=\"wp-block-list\">\n<li>\u203b4\u756a\u67d3\u8272\u4f53\u306e<em>PITX2<\/em>\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u773c\u306e\u75c7\u72b6\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u6b6f\u3084\u81cd\uff08\u3078\u305d\uff09\u306e\u7570\u5e38\u304c\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u672c\u75be\u60a3\uff08RIEG3\uff09\u3068\u306f\u5168\u8eab\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\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>6\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0925.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u5148\u7aef\u306b\u8fd1\u3044\u300c25.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u3001<strong>FOXC1\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u3001\u6b20\u5931\u3001\u3042\u308b\u3044\u306f\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068FOXC1\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/p>\n\n\n\n<p>FOXC1 (Forkhead Box C1) \u907a\u4f1d\u5b50\u306f\u3001\u30d5\u30a9\u30fc\u30af\u30d8\u30c3\u30c9\u578b\u8ee2\u5199\u56e0\u5b50\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u80ce\u5150\u671f\u306e\u767a\u751f\u306b\u304a\u3044\u3066\u3001\u7279\u5b9a\u306e\u7d30\u80de\u96c6\u56e3\u306b\u5bfe\u3057\u3066\u300c\u79fb\u52d5\u305b\u3088\u300d\u300c\u5206\u5316\u305b\u3088\u300d\u3068\u3044\u3046\u6307\u4ee4\u3092\u51fa\u3059\u3001\u6975\u3081\u3066\u91cd\u8981\u306a\u53f8\u4ee4\u5854\uff08\u30de\u30b9\u30bf\u30fc\u907a\u4f1d\u5b50\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u5824\u7d30\u80de\u3068\u4e2d\u80da\u8449:<\/strong> \u7279\u306b\u3001**\u300c\u795e\u7d4c\u5824\u7d30\u80de\uff08Neural Crest Cells\uff09\u300d<strong>\u3068<\/strong>\u300c\u4e2d\u80da\u8449\u300d**\u7531\u6765\u306e\u7d44\u7e54\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u773c\u306e\u524d\u773c\u90e8\uff08\u89d2\u819c\u3001\u8679\u5f69\u3001\u9685\u89d2\uff09\u3001\u5fc3\u81d3\u3001\u8840\u7ba1\u3001\u8edf\u9aa8\u3001\u8133\u306e\u4e00\u90e8\uff08\u5c0f\u8133\u306a\u3069\uff09\u3092\u4f5c\u308b\u6750\u6599\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>FOXC1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u305d\u306e\u300c\u91cf\u300d\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u30fb\u5909\u7570:<\/strong> \u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u534a\u5206\u306b\u306a\u308b\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3001\u773c\u3084\u5fc3\u81d3\u306e\u5f62\u6210\u4e0d\u5168\u304c\u8d77\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907:<\/strong> \u9006\u306b\u907a\u4f1d\u5b50\u304c\u5897\u3048\u3066\u904e\u5270\u306b\u306a\u3063\u3066\u3082\u3001\u4f3c\u305f\u3088\u3046\u306a\u773c\u306e\u7570\u5e38\uff08\u8679\u5f69\u5f62\u6210\u4e0d\u5168\u306a\u3069\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3064\u307e\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u300c\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u30c0\u30e1\u300d\u3068\u3044\u3046\u7e4a\u7d30\u306a\u30d0\u30e9\u30f3\u30b9\u306e\u4e0a\u306b\u6210\u308a\u7acb\u3063\u3066\u3044\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>\u7a00\uff08Rare\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\u304c\u3001\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u5168\u4f53\uff08\u5168\u30bf\u30a4\u30d7\u542b\u3080\uff09\u3068\u3057\u3066\u3001\u51fa\u751f200,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5185\u8a33\u3068\u3057\u3066\u3001RIEG1\uff08PITX2\u5909\u7570\uff09\u3068RIEG3\uff08FOXC1\u5909\u7570\uff09\u304c\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u5168\u4f53\u306e\u7d0440%\u305a\u3064\u3092\u5360\u3081\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u6b8b\u308a\u306e\u7d0420%\u306f\u539f\u56e0\u4e0d\u660e\uff09\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<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u306e\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u5bb6\u7cfb\u5185\u306b\u8907\u6570\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\uff08\u5bb6\u65cf\u6027\u767a\u75c7\uff09\u30b1\u30fc\u30b9\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u306b\u3088\u308b\u5b64\u767a\u4f8b\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\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>Axenfeld-Rieger syndrome, type 3 (RIEG3) \u306e\u75c7\u72b6\u306f\u3001**\u300c\u773c\u306e\u767a\u9054\u7570\u5e38\u300d\u3068\u300c\u773c\u4ee5\u5916\u306e\u5168\u8eab\u5408\u4f75\u75c7\u300d\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306e\u75c7\u72b6\u306f1\u578b\uff08RIEG1\uff09\u3068\u975e\u5e38\u306b\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u300c\u5fc3\u81d3\u300d\u300c\u8074\u899a\u300d\u300c\u8133\u300d**\u306e\u7570\u5e38\u3092\u5408\u4f75\u3057\u3084\u3059\u3044\u70b9\u304cRIEG3\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u9006\u306b1\u578b\u3067\u7279\u5fb4\u7684\u306a\u300c\u6b6f\u300d\u3084\u300c\u81cd\u300d\u306e\u7570\u5e38\u306f\u5c11\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u306e\u75c7\u72b6\uff08Ocular features\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u4e2d\u6838\u75c7\u72b6\u3067\u3059\u3002\u4e21\u773c\u6027\u3067\u3059\u304c\u3001\u5de6\u53f3\u3067\u7a0b\u5ea6\u304c\u7570\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f8c\u90e8\u80ce\u751f\u74b0\uff08Posterior embryotoxon\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89d2\u819c\uff08\u9ed2\u76ee\uff09\u306e\u7e01\u306b\u3042\u308b\u300c\u30b7\u30e5\u30ef\u30eb\u30d9\u7dda\u300d\u3068\u3044\u3046\u7d44\u7e54\u304c\u80a5\u539a\u3057\u3001\u524d\u65b9\u306b\u504f\u4f4d\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u533b\u5e2b\u304c\u8a3a\u5bdf\u3059\u308b\u3068\u3001\u89d2\u819c\u306e\u8fba\u7e01\u306b\u767d\u3044\u7dda\u3068\u3057\u3066\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8679\u5f69\u306e\u7570\u5e38\uff08Iris anomalies\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8679\u5f69\u7a81\u8d77\uff08Iris processes\uff09\uff1a<\/strong> \u8679\u5f69\uff08\u8336\u76ee\uff09\u306e\u6839\u5143\u304b\u3089\u89d2\u819c\u306e\u88cf\u5074\u3078\u3001\u7cf8\u306e\u3088\u3046\u306a\u7d44\u7e54\u304c\u7652\u7740\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8679\u5f69\u4f4e\u5f62\u6210\uff08Iris hypoplasia\uff09\uff1a<\/strong> \u8679\u5f69\u306e\u5b9f\u8cea\u304c\u8584\u304f\u3001\u306e\u3063\u307a\u308a\u3068\u3057\u3066\u898b\u3048\u305f\u308a\uff08\u30af\u30ea\u30d7\u30c8\u306e\u6d88\u5931\uff09\u3001\u4e00\u90e8\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77b3\u5b54\u504f\u4f4d\uff08Corectopia\uff09\uff1a<\/strong> \u77b3\u5b54\u304c\u4e2d\u5fc3\u304b\u3089\u305a\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u77b3\u5b54\uff08Polycoria\uff09\uff1a<\/strong> \u77b3\u5b54\u304c\u8907\u6570\u3042\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u3001\u80ce\u5150\u671f\u306b\u773c\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u7d44\u7e54\u304c\u5b8c\u5168\u306b\u5206\u96e2\u3057\u304d\u308c\u306a\u304b\u3063\u305f\uff08\u5206\u5316\u7570\u5e38\uff09\u540d\u6b8b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7dd1\u5185\u969c\uff08Glaucoma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u8b66\u6212\u3059\u3079\u304d\u5408\u4f75\u75c7<\/strong>\u3067\u3059\u3002\u60a3\u8005\u3055\u3093\u306e<strong>\u7d0450%<\/strong>\uff08\u5831\u544a\u306b\u3088\u3063\u3066\u306f\u305d\u308c\u4ee5\u4e0a\uff09\u304c\u7dd1\u5185\u969c\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u306e\u4e2d\u306e\u6c34\uff08\u623f\u6c34\uff09\u306e\u51fa\u53e3\u3067\u3042\u308b\u300c\u9685\u89d2\u300d\u306e\u767a\u9054\u304c\u60aa\u3044\u305f\u3081\u3001\u773c\u5727\u304c\u4e0a\u304c\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5e7c\u5150\u671f\uff08\u5148\u5929\u7dd1\u5185\u969c\uff09\u304b\u3089\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5c0f\u5150\u671f\u301c\u82e5\u5e74\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u9032\u884c\u3059\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5fc3\u75be\u60a3\uff08Cardiac anomalies\uff09<\/strong><\/p>\n\n\n\n<p>RIEG3\uff08<em>FOXC1<\/em>\u5909\u7570\uff09\u306b\u304a\u3044\u3066\u3001RIEG1\u3088\u308a\u3082\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5f01\u306e\u7570\u5e38\uff08\u50e7\u5e3d\u5f01\u9038\u8131\u3001\u5927\u52d5\u8108\u5f01\u72ed\u7a84\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>FOXC1<\/em>\u907a\u4f1d\u5b50\u304c\u5fc3\u81d3\u306e\u6d41\u51fa\u8def\u3084\u5f01\u306e\u5f62\u6210\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u6642\u306b\u306f\u5fc5\u305a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8074\u899a\u969c\u5bb3\uff08Hearing loss\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u6027\u96e3\u8074:<\/strong>\n<ul class=\"wp-block-list\">\n<li>RIEG3\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u88dc\u8074\u5668\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9854\u8c8c\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u9f3b\u6839\u90e8\uff08Broad nasal bridge\uff09\uff1a<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u592a\u304f\u5e73\u5766\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c6\u30ec\u30ab\u30f3\u30b5\u30b9\uff08Telecanthus\uff09\uff1a<\/strong> \u5185\u773c\u89d2\uff08\u76ee\u982d\uff09\u540c\u58eb\u306e\u8ddd\u96e2\u304c\u96e2\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u5e73\u5766\u306a\u4e2d\u9854\u9762\u3001\u524d\u982d\u90e8\u7a81\u51fa\uff08\u304a\u3067\u3053\u304c\u51fa\u3066\u3044\u308b\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002RIEG1\u306b\u6bd4\u3079\u3066\u9854\u8c8c\u306e\u7279\u5fb4\u306f\u30de\u30a4\u30eb\u30c9\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u50be\u5411\u306f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>FOXC1<\/em>\u306f\u8133\u306e\u9ac4\u819c\u3084\u8840\u7ba1\u306e\u5f62\u6210\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001MRI\u691c\u67fb\u3092\u884c\u3046\u3068\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Dandy-Walker\u5947\u5f62\u69d8\u6240\u898b:<\/strong> \u5c0f\u8133\u866b\u90e8\u306e\u4f4e\u5f62\u6210\u3084\u3001\u5f8c\u982d\u84cb\u7aa9\u306e\u62e1\u5927\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8133\u5ba4\u62e1\u5927\u30fb\u6c34\u982d\u75c7:<\/strong> \u8133\u810a\u9ac4\u6db2\u306e\u5faa\u74b0\u304c\u60aa\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767d\u8cea\u75c5\u5909:<\/strong> \u8133\u306e\u767d\u8cea\u306b\u5c0f\u3055\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u591a\u304f\u306e\u5834\u5408\u306f\u7121\u75c7\u72b6\u3067\u3059\u304c\u3001\u7a00\u306b\u767a\u9054\u9045\u6ede\u3084\u904b\u52d5\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u6b20\u5931\uff086p25\u6b20\u5931\uff09\u306e\u5834\u5408\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3092\u5408\u4f75\u3059\u308b\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u6b6f\u30fb\u81cd\u306e\u7570\u5e38\u306b\u3064\u3044\u3066\uff08RIEG1\u3068\u306e\u9055\u3044\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b6f\u306e\u7570\u5e38:<\/strong> RIEG1\uff08<em>PITX2<\/em>\uff09\u3067\u306f\u300c\u6b6f\u304c\u8db3\u308a\u306a\u3044\uff08\u6b20\u640d\u6b6f\uff09\u300d\u300c\u6b6f\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u6b6f\u75c7\uff09\u300d\u304c\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u3059\u304c\u3001RIEG3\uff08<em>FOXC1<\/em>\uff09\u3067\u306f\u3053\u308c\u3089\u306e\u7570\u5e38\u306f<strong>\u7a00\u3067\u3042\u308b\u304b\u3001\u8efd\u5ea6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81cd\u306e\u7570\u5e38:<\/strong> RIEG1\u3067\u898b\u3089\u308c\u308b\u300c\u304a\u3078\u305d\u306e\u76ae\u819a\u306e\u4f59\u308a\uff08\u51fa\u3079\u305d\uff09\u300d\u306f\u3001RIEG3\u3067\u306f\u901a\u5e38\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9055\u3044\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u63a8\u5b9a\u3059\u308b\u4e0a\u3067\u975e\u5e38\u306b\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff086p25.3\uff09\u306b\u304a\u3051\u308bFOXC1\u907a\u4f1d\u5b50\u306e\u7570\u5e38<\/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>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>FOXC1<\/em>\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\uff08\u5869\u57fa\u914d\u5217\u306e\u9593\u9055\u3044\uff09\u3084\u3001\u907a\u4f1d\u5b50\u5168\u4f53\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u773c\u3084\u5fc3\u81d3\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u4ee4\u304c\u91cf\u7684\u306b\u4e0d\u8db3\u3057\u3001\u5f62\u6210\u4e0d\u5168\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30d4\u30fc\u6570\u91cd\u8907\uff08Duplication\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u306b\u3088\u308a\u3001<em>FOXC1<\/em>\u907a\u4f1d\u5b50\u306e\u6570\u304c\u5897\u3048\u3066\u3057\u307e\u3046\uff081.5\u500d\u306b\u306a\u308b\uff09\u3053\u3068\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u907a\u4f1d\u5b50\u304c\u300c\u8db3\u308a\u306a\u3044\u300d\u5834\u5408\u3068\u300c\u591a\u3059\u304e\u308b\u300d\u5834\u5408\u3067\u3001\u975e\u5e38\u306b\u4f3c\u305f\u773c\u306e\u75c7\u72b6\uff08\u8679\u5f69\u9685\u89d2\u5f62\u6210\u4e0d\u5168\uff09\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u767a\u751f\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u91cf\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u3044\u304b\u306b\u7e4a\u7d30\u304b\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u5b50\u4f9b\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027:<\/strong> \u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u89aa\u5b50\u3067\u3082\u3001\u300c\u89aa\u306f\u7dd1\u5185\u969c\u306e\u307f\u3001\u5b50\u306f\u5fc3\u75be\u60a3\u3092\u5408\u4f75\u300d\u3068\u3044\u3063\u305f\u3088\u3046\u306b\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u5909\u7570\u3067\u3042\u308b\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\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\u7570\u5e38\u300d\u306b\u52a0\u3048\u3066\u300c\u5168\u8eab\u6240\u898b\u300d\u3084\u300c\u5bb6\u65cf\u6b74\u300d\u3092\u8a55\u4fa1\u3057\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7d30\u9699\u706f\u9855\u5fae\u93e1\u691c\u67fb:<\/strong> \u5f8c\u90e8\u80ce\u751f\u74b0\u3001\u8679\u5f69\u7a81\u8d77\u3001\u8679\u5f69\u4f4e\u5f62\u6210\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9685\u89d2\u691c\u67fb\uff08\u30b4\u30cb\u30aa\u30b9\u30b3\u30d4\u30fc\uff09\uff1a<\/strong> \u9685\u89d2\u306e\u69cb\u9020\u7570\u5e38\uff08\u9ad8\u4f4d\u8679\u5f69\u4ed8\u7740\u306a\u3069\uff09\u3092\u76f4\u63a5\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u5727\u691c\u67fb\u30fb\u8996\u91ce\u691c\u67fb:<\/strong> \u7dd1\u5185\u969c\u306e\u6709\u7121\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5f01\u819c\u75c7\u3084\u4e2d\u9694\u6b20\u640d\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\uff08RIEG3\u3067\u306f\u5fc5\u9808\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb:<\/strong> \u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u5c0f\u8133\u3084\u8133\u5ba4\uff09\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30fb\u8eab\u4f53\u8a3a\u5bdf:<\/strong> RIEG1\u3068\u306e\u9451\u5225\u306e\u305f\u3081\u3001\u6b6f\u3084\u81cd\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u304b\u3089DNA\u3092\u62bd\u51fa\u3057\u3001<em>FOXC1<\/em>\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790:<\/strong> \u70b9\u5909\u7570\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u30fb\u91cd\u8907\u89e3\u6790\uff08CMA\/MLPA\uff09\uff1a<\/strong> \u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u7570\u5e38\uff08\u6b20\u5931\u3084\u91cd\u8907\uff09\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>FOXC1<\/em>\u306b\u7570\u5e38\u304c\u3042\u308c\u3070RIEG3\u3001<em>PITX2<\/em>\u306b\u7570\u5e38\u304c\u3042\u308c\u3070RIEG1\u3068\u78ba\u5b9a\u3055\u308c\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001**\u300c\u7dd1\u5185\u969c\u306b\u3088\u308b\u5931\u660e\u3092\u9632\u3050\u3053\u3068\u300d\u3068\u3001\u300c\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7dd1\u5185\u969c\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<p>\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3068\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5\uff08\u70b9\u773c\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u305a\u306f\u70b9\u773c\u85ac\uff08\u03b2\u906e\u65ad\u85ac\u3001\u70ad\u9178\u8131\u6c34\u9175\u7d20\u963b\u5bb3\u85ac\u3001\u30d7\u30ed\u30b9\u30bf\u30b0\u30e9\u30f3\u30b8\u30f3\u95a2\u9023\u85ac\u306a\u3069\uff09\u3067\u773c\u5727\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u9685\u89d2\u306e\u5f62\u6210\u7570\u5e38\u3068\u3044\u3046\u300c\u69cb\u9020\u7684\u306a\u554f\u984c\u300d\u304c\u3042\u308b\u305f\u3081\u3001\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\uff08\u62b5\u6297\u6027\uff09\u30b1\u30fc\u30b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u85ac\u3067\u773c\u5727\u304c\u5341\u5206\u306b\u4e0b\u304c\u3089\u306a\u3044\u5834\u5408\u3001\u65e9\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9685\u89d2\u5207\u958b\u8853\uff08\u30b4\u30cb\u30aa\u30c8\u30df\u30fc\uff09 \/ \u30c8\u30e9\u30d9\u30af\u30ed\u30c8\u30df\u30fc:<\/strong> \u9685\u89d2\u3092\u5207\u958b\u3057\u3066\u623f\u6c34\u306e\u6d41\u308c\u3092\u826f\u304f\u3057\u307e\u3059\u3002\u5c0f\u5150\u671f\u306b\u306f\u9ad8\u3044\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7dda\u7dad\u67f1\u5e2f\u5207\u9664\u8853\uff08\u30c8\u30e9\u30d9\u30af\u30ec\u30af\u30c8\u30df\u30fc\uff09\uff1a<\/strong> \u623f\u6c34\u306e\u30d0\u30a4\u30d1\u30b9\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c1\u30e5\u30fc\u30d6\u30b7\u30e3\u30f3\u30c8\u624b\u8853:<\/strong> \u30a4\u30f3\u30d7\u30e9\u30f3\u30c8\u3092\u633f\u5165\u3057\u3066\u623f\u6c34\u3092\u9003\u304c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8907\u6570\u56de\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5168\u8eab\u5408\u4f75\u75c7\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d4c\u904e\u89b3\u5bdf\u3067\u826f\u3044\u8efd\u5ea6\u306e\u3082\u306e\u304b\u3089\u3001\u624b\u8853\u304c\u5fc5\u8981\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002\u5faa\u74b0\u5668\u5185\u79d1\u533b\u306b\u3088\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u8074:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u3001\u8a00\u8a9e\u767a\u9054\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7f9e\u660e\uff08\u307e\u3076\u3057\u3055\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u906e\u5149\u773c\u93e1\uff08\u30b5\u30f3\u30b0\u30e9\u30b9\uff09\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300cRIEG3\u300d\u3068\u3044\u3046\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001RIEG1\u3068\u9055\u3063\u3066\u300c\u5fc3\u81d3\u300d\u3084\u300c\u8033\u300d\u306b\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3042\u308b\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3082\u3089\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u8efd\u75c7\u4f8b\uff08\u81ea\u899a\u75c7\u72b6\u306e\u306a\u3044\u7dd1\u5185\u969c\u306a\u3069\uff09\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u773c\u79d1\u691c\u8a3a\u3092\u5f37\u304f\u63a8\u5968\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u95a2\u3059\u308b\u76f8\u8ac7\uff08\u7740\u5e8a\u524d\u8a3a\u65ad\u306a\u3069\uff09\u306b\u5fdc\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Axenfeld-Rieger syndrome, type 3 (RIEG3) \u306f\u30016\u756a\u67d3\u8272\u4f53\u306eFOXC1\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u95a2\u9023\u3057\u3066\u3001\u773c\u3084\u5fc3\u81d3\u3001\u8033\u306a\u3069\u304c\u751f\u307e\u308c\u3064\u304d\u7279\u5fb4\u7684\u306a\u5f62\u3084\u6a5f\u80fd\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u30011\u578b\uff08RIEG1\uff09\u3068\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u6b6f\u3084\u304a\u3078\u305d\u306e\u7570\u5e38\u304c\u5c11\u306a\u304f\u3001\u4ee3\u308f\u308a\u306b\u5fc3\u81d3\u306e\u75c5\u6c17\u3084\u96e3\u8074\u3092\u5408\u4f75\u3057\u3084\u3059\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u3084\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u6700\u3082\u5927\u5207\u306a\u30df\u30c3\u30b7\u30e7\u30f3\u306f**\u300c\u7dd1\u5185\u969c\u304b\u3089\u8996\u529b\u3092\u5b88\u308b\u3053\u3068\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u773c\u306e\u4e2d\u306e\u6c34\u306f\u3051\u304c\u60aa\u304f\u306a\u308a\u3084\u3059\u304f\u3001\u7d04\u534a\u6570\u306e\u65b9\u304c\u7dd1\u5185\u969c\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u7dd1\u5185\u969c\u306f\u300c\u5927\u4eba\u306e\u75c5\u6c17\u300d\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u5834\u5408\u306f\u5b50\u4f9b\u306e\u9803\u304b\u3089\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75db\u307f\u306a\u3069\u306e\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u9032\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u300c\u898b\u3048\u3066\u3044\u308b\u304b\u3089\u5927\u4e08\u592b\u300d\u3068\u5b89\u5fc3\u305b\u305a\u3001\u773c\u79d1\u3067\u306e\u5b9a\u671f\u691c\u8a3a\uff08\u773c\u5727\u691c\u67fb\u306a\u3069\uff09\u3092\u751f\u6d3b\u306e\u4e00\u90e8\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306b\u767a\u898b\u3067\u304d\u308c\u3070\u3001\u70b9\u773c\u85ac\u3084\u624b\u8853\u306b\u3088\u3063\u3066\u3001\u8996\u529b\u3092\u7dad\u6301\u3057\u7d9a\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5fc3\u81d3\u3084\u8033\u306b\u3064\u3044\u3066\u3082\u3001\u4e00\u5ea6\u3057\u3063\u304b\u308a\u691c\u67fb\u3092\u53d7\u3051\u3066\u304a\u3051\u3070\u3001\u9069\u5207\u306a\u7ba1\u7406\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u67d3\u8272\u4f53\u306e\u5927\u304d\u306a\u6b20\u5931\u3092\u4f34\u308f\u306a\u3044\u9650\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3001\u5faa\u74b0\u5668\u5185\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u672a\u6765\u3068\u300c\u898b\u3048\u308b\u4e16\u754c\u300d\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u5b88\u3063\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>Nishimura, D.Y., et al.<\/strong> (1998). <em>The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bFOXC1\u907a\u4f1d\u5b50\uff08\u5f53\u6642\u306fFKHL7\u3068\u547c\u3070\u308c\u305f\uff09\u304c\u30016p25\u9818\u57df\u306b\u30de\u30c3\u30d7\u3055\u308c\u308b\u7dd1\u5185\u969c\u3084\u8679\u5f69\u7570\u5e38\uff08RIEG3\uff09\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u3001\u6b74\u53f2\u7684\u304b\u3064\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tumer, Z., et al.<\/strong> (2016). <em>Axenfeld-Rieger spectrum: Overview of the genetic heterogeneity and genotype-phenotype correlations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u30ec\u30d3\u30e5\u30fc\u3002\u7279\u306bRIEG1\uff08PITX2\uff09\u3068RIEG3\uff08FOXC1\uff09\u306e\u81e8\u5e8a\u50cf\u306e\u9055\u3044\uff08\u6b6f\u30fb\u81cd vs \u5fc3\u81d3\u30fb\u8074\u899a\uff09\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u6bd4\u8f03\u30fb\u89e3\u8aac\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Strungaru, M.H., et al.<\/strong> (2007). <em>PITX2 and FOXC1 spectrum of mutations in ocular syndromes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u773c\u5f62\u6210\u7570\u5e38\u306b\u304a\u3051\u308bFOXC1\u5909\u7570\u306e\u7a2e\u985e\u3068\u3001\u7dd1\u5185\u969c\u767a\u75c7\u30ea\u30b9\u30af\u306e\u76f8\u95a2\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ito, Y.A., et al.<\/strong> (2014). <em>Copy number variation of FOXC1 is a frequent cause of anterior segment dysgenesis.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bFOXC1\u907a\u4f1d\u5b50\u306e\u300c\u6b20\u5931\u300d\u3060\u3051\u3067\u306a\u304f\u300c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff09\u300d\u3082\u307e\u305f\u3001\u540c\u69d8\u306e\u773c\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Axenfeld-Rieger Syndrome<\/em>. Initial Posting: 2003; Last Update: 2018. <em>Authors: Alward WLM.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u5404\u30bf\u30a4\u30d7\uff08RIEG1, RIEG3\uff09\u306e\u9451\u5225\u70b9\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Reis, L.M., et al.<\/strong> (2012). <em>FOXC1 Dosage Variance Causes the Anterior Segment Defects and Glaucoma in Axenfeld-Rieger Syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bFOXC1\u306e\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Dosage effect\uff09\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u81e8\u5e8a\u50cf\u306e\u95a2\u9023\u3092\u8a73\u8ff0\u3057\u305f\u6587\u732e\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> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17236","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17236","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17236\/revisions"}],"predecessor-version":[{"id":17257,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17236\/revisions\/17257"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17236"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}