{"id":17095,"date":"2026-01-21T06:26:40","date_gmt":"2026-01-21T06:26:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17095"},"modified":"2026-01-21T06:27:05","modified_gmt":"2026-01-21T06:27:05","slug":"5q14-3-deletion-proximal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/5q14-3-deletion-proximal-syndrome\/","title":{"rendered":"5q14.3 deletion (proximal) 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>5q14.3\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>RASA1\u95a2\u9023\u969c\u5bb3\uff08RASA1-related disorder\uff09<\/li>\n\n\n\n<li>\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62-\u52d5\u9759\u8108\u5947\u5f62\u75c7\u5019\u7fa4\uff08Capillary Malformation-Arteriovenous Malformation Syndrome; CM-AVM\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u6b20\u5931\u9818\u57df\u306b<em>RASA1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u306e\u8868\u73fe\u578b\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30d1\u30fc\u30ab\u30fc\u30fb\u30a6\u30a7\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\uff08Parkes Weber syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203bRASA1\u5909\u7570\/\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u3001\u56db\u80a2\u306e\u80a5\u5927\u3068\u8840\u7ba1\u5947\u5f62\u3092\u4f34\u3046\u91cd\u75c7\u578b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5q14.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff085q14.3 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a5q14.3 deletion (distal) syndrome \/ MEF2C\u95a2\u9023\u969c\u5bb3\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u30585q14.3\u9818\u57df\u3067\u3082\u300c\u9060\u4f4d\uff08distal\uff09\u300d\u306e\u6b20\u5931\u306f\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u3092\u4e3b\u5fb4\u3068\u3057\u3001\u672c\u75be\u60a3\uff08\u8fd1\u4f4d\u6b20\u5931\uff09\u3068\u306f\u5168\u304f\u7570\u306a\u308b\u81e8\u5e8a\u50cf\u3092\u793a\u3057\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>5\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0914.3\u9818\u57df\uff08\u8fd1\u4f4d\u9818\u57df\uff09<\/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\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c14.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306e\u3046\u3061\u3001**\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5bc4\u308a\uff08\u8fd1\u4f4d\uff1aproximal\uff09**\u306eDNA\u914d\u5217\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\u8fd1\u4f4d\u30fb\u9060\u4f4d\u306e\u533a\u5225\u3011<\/p>\n\n\n\n<p>5q14.3\u9818\u57df\u306f\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u3044\u9818\u57df\u3067\u3059\u3002\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u5927\u304d\u304f2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff08Proximal deletion\uff09\uff1a\u672c\u75be\u60a3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u4e2d\u5fc3\u304c5q14.3\u306e\u524d\u534a\u90e8\u5206\u306b\u3042\u308a\u3001<strong>RASA1\u907a\u4f1d\u5b50<\/strong>\u3092\u542b\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08\u76ae\u819a\u306e\u3042\u3056\u3001\u52d5\u9759\u8108\u5947\u5f62\uff09\u304c\u4e3b\u4f53\u3067\u3059\u3002\u77e5\u7684\u969c\u5bb3\u306f\u8efd\u5ea6\u304b\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u306a\u3044\uff08\u6b63\u5e38\u77e5\u80fd\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9060\u4f4d\u6b20\u5931\uff08Distal deletion\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u4e2d\u5fc3\u304c5q14.3\u306e\u5f8c\u534a\u90e8\u5206\u306b\u3042\u308a\u3001<strong>MEF2C\u907a\u4f1d\u5b50<\/strong>\u3092\u542b\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u69d8\u884c\u52d5\u304c\u4e3b\u4f53\u3067\u3059\u3002\u8840\u7ba1\u5947\u5f62\u306f\u901a\u5e38\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff1aRASA1\u3011<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3051\u308b\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u306f\u3001RASA1 (RAS p21 Protein Activator 1) \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>RASA1<\/em>\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3001\u8840\u7ba1\u306e\u5f62\u6210\u3092\u5236\u5fa1\u3059\u308b\u300cRas-MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u300d\u3092\u6291\u5236\u3059\u308b\uff08\u30d6\u30ec\u30fc\u30ad\u3092\u304b\u3051\u308b\uff09\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u8840\u7ba1\u3092\u4f5c\u308b\u7d30\u80de\u304c\u904e\u5270\u306b\u5897\u6b96\u3057\u305f\u308a\u3001\u8840\u7ba1\u306e\u69cb\u9020\u304c\u4e71\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u7279\u5fb4\u7684\u306a\u300c\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u300d\u3084\u300c\u52d5\u9759\u8108\u763b\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/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\u3002<\/p>\n\n\n\n<p>5q14.3\u6b20\u5931\u5168\u4f53\u3068\u3057\u3066\u306f\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u304c\u3001\u8fd1\u4f4d\u6b20\u5931\uff08RASA1\u6b20\u5931\uff09\u306b\u3088\u308bCM-AVM\u75c7\u5019\u7fa4\u81ea\u4f53\u306f\u3001\u8840\u7ba1\u5947\u5f62\u306e\u5c02\u9580\u5916\u6765\u306b\u304a\u3044\u3066\u306f\u6bd4\u8f03\u7684\u8a8d\u77e5\u3055\u308c\u3066\u3044\u307e\u3059\uff08CM-AVM\u306e\u767a\u75c7\u983b\u5ea6\u306f\u7d041\/20,000\u301c1\/100,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u70b9\u5909\u7570\u3067\u306f\u306a\u304f\u300c\u67d3\u8272\u4f53\u6b20\u5931\u300d\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u306e\u983b\u5ea6\u306f\u4e0d\u660e\u3067\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<p>\u307e\u305f\u3001\u9060\u4f4d\u6b20\u5931\uff08MEF2C\uff09\u306f\u7a81\u7136\u5909\u7570\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001\u8fd1\u4f4d\u6b20\u5931\uff08RASA1\uff09\u306f**\u5bb6\u65cf\u6027\uff08\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff09**\u306e\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\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>5q14.3 deletion (proximal) syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u591a\u767a\u3059\u308b\u76ae\u819a\u306e\u8840\u7ba1\u5947\u5f62\uff08\u8d64\u3042\u3056\uff09\u300d**\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u52a0\u3048\u3066\u3001\u4f53\u5185\uff08\u8133\u3084\u810a\u9ac4\u306a\u3069\uff09\u306e\u8840\u7ba1\u7570\u5e38\u3084\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u5fdc\u3058\u305f\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9060\u4f4d\u6b20\u5931\uff08MEF2C\uff09\u306e\u3088\u3046\u306a\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u306f\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u76ae\u819a\u8840\u7ba1\u5947\u5f62\uff08Cutaneous Vascular Anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u898b\u3089\u308c\u308b\u3001\u8a3a\u65ad\u306e\u6700\u521d\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u767a\u6027\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\uff08Multifocal Capillary Malformations\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d4\u30f3\u30af\u8272\u304b\u3089\u8d64\u8272\u306e\u3001\u5e73\u5766\u306a\u300c\u3042\u3056\u300d\u304c\u8eab\u4f53\u306e\u3042\u3061\u3053\u3061\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30dd\u30fc\u30c8\u30ef\u30a4\u30f3\u6bcd\u6591\uff08Port-wine stain\uff09\u306b\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u3088\u308a\u5c0f\u3055\u304f\u3001\u591a\u6570\u6563\u5728\u3059\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767d\u3044\u7e01\u53d6\u308a\uff08Pale halo\uff09\uff1a<\/strong> \u8d64\u3044\u3042\u3056\u306e\u5468\u308a\u304c\u767d\u304f\u629c\u3051\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306f<em>RASA1<\/em>\u5909\u7570\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9854\u3001\u4f53\u5e79\u3001\u56db\u80a2\u306a\u3069\u3001\u5834\u6240\u3092\u9078\u3070\u305a\u51fa\u73fe\u3057\u307e\u3059\u3002\u51fa\u751f\u6642\u304b\u3089\u5b58\u5728\u3059\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u306f\u3063\u304d\u308a\u3057\u3066\u304f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u9ad8\u6d41\u901f\u75c5\u5909\uff1a\u52d5\u9759\u8108\u5947\u5f62\u30fb\u52d5\u9759\u8108\u763b\uff08AVM \/ AVF\uff09<\/strong><\/p>\n\n\n\n<p>\u76ae\u819a\u306e\u3042\u3056\u3060\u3051\u3067\u306a\u304f\u3001\u3088\u308a\u6df1\u3044\u90e8\u5206\u306e\u8840\u7ba1\u306b\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u533b\u5b66\u7684\u306b\u6700\u3082\u7ba1\u7406\u3092\u8981\u3059\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u52d5\u9759\u8108\u5947\u5f62\uff08AVM\uff09 \/ \u52d5\u9759\u8108\u763b\uff08AVF\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u306f\u300c\u52d5\u8108\u2192\u6bdb\u7d30\u8840\u7ba1\u2192\u9759\u8108\u300d\u3068\u6d41\u308c\u308b\u8840\u6db2\u304c\u3001\u6bdb\u7d30\u8840\u7ba1\u3092\u7d4c\u7531\u305b\u305a\u306b\u300c\u52d5\u8108\u2192\u9759\u8108\u300d\u3078\u76f4\u63a5\u6d41\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\uff08\u77ed\u7d61\uff09\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u8840\u6d41\u304c\u901f\u304f\u306a\u308a\uff08\u9ad8\u6d41\u901f\uff09\u3001\u9759\u8108\u306b\u9ad8\u3044\u5727\u529b\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u5fc3\u81d3\u306b\u8ca0\u62c5\u304c\u304b\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u751f\u90e8\u4f4d:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u30fb\u76ae\u4e0b\u7d44\u7e54:<\/strong> \u62cd\u52d5\u3059\u308b\u3057\u3053\u308a\u3068\u3057\u3066\u89e6\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08\u8133\u30fb\u810a\u9ac4\uff09:<\/strong> \u8133\u52d5\u9759\u8108\u5947\u5f62\u306a\u3069\u304c\u751f\u3058\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u9762\u30fb\u56db\u80a2:<\/strong> \u5507\u3084\u624b\u8db3\u306b\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d1\u30fc\u30ab\u30fc\u30fb\u30a6\u30a7\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\uff08Parkes Weber syndrome\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u56db\u80a2\uff08\u8155\u3084\u811a\uff09\u306b\u5927\u304d\u306a\u52d5\u9759\u8108\u763b\u304c\u3042\u308a\u3001\u305d\u306e\u5f71\u97ff\u3067\u60a3\u80a2\u304c\u592a\u304f\u30fb\u9577\u304f\uff08\u904e\u6210\u9577\uff09\u306a\u308a\u3001\u5fc3\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3046\u91cd\u75c7\u578b\u3067\u3059\u3002RASA1\u6b20\u5931\u306e\u4e00\u90e8\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u9060\u4f4d\u6b20\u5931\uff08MEF2C\uff09\u3068\u306f\u5bfe\u7167\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>RASA1<\/em>\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u7570\u5e38\u3067\u3042\u308c\u3070\u3001**\u77e5\u80fd\u306f\u6b63\u5e38\uff08Normal IQ\uff09**\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u67d3\u8272\u4f53\u6b20\u5931\uff08deletion\uff09\u306e\u5834\u5408\u3001<em>RASA1<\/em>\u4ee5\u5916\u306e\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u3066\u3044\u308b\u305f\u3081\u3001<strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede<\/strong>\u3084<strong>\u5b66\u7fd2\u969c\u5bb3<\/strong>\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u308c\u3067\u3082\u3001\u9060\u4f4d\u6b20\u5931\u306e\u3088\u3046\u306a\u300c\u4f1a\u8a71\u4e0d\u80fd\u306a\u307b\u3069\u306e\u91cd\u5ea6\u77e5\u7684\u969c\u5bb3\u300d\u3084\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u306f\u898b\u3089\u308c\u306a\u3044\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5185\u306e\u8840\u7ba1\u5947\u5f62\u306b\u3088\u308b\u982d\u75db\u3084\u3001\u7a00\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u983b\u5ea6\u306f\u4f4e\u3044\u3067\u3059\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>\u5fc3\u6a5f\u80fd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u304d\u306a\u52d5\u9759\u8108\u763b\u304c\u3042\u308b\u5834\u5408\u3001\u5fc3\u81d3\u306b\u623b\u308b\u8840\u6db2\u91cf\u304c\u5897\u3048\u3059\u304e\u3066\u5fc3\u81d3\u306b\u8ca0\u62c5\u304c\u304b\u304b\u308a\u3001\u9ad8\u62cd\u51fa\u6027\u5fc3\u4e0d\u5168\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e73\u3073\u80f8\u30fb\u4e73\u3073\u8179\u6c34:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ea\u30f3\u30d1\u7ba1\u306e\u5f62\u6210\u7570\u5e38\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u80f8\u3084\u304a\u8179\u306b\u30ea\u30f3\u30d1\u6db2\u304c\u6e9c\u307e\u308b\u3053\u3068\u304c\u3042\u308a\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\uff085q14.3\uff09\u306e\u8fd1\u4f4d\u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. RASA1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u306f\u3001<em>RASA1<\/em>\u907a\u4f1d\u5b50\u304c\u534a\u5206\u306a\u304f\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u308b\u8840\u7ba1\u5f62\u6210\u306e\u5236\u5fa1\u4e0d\u5168\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b63\u5e38\u306a\u72b6\u614b\u3067\u306f\u3001<em>RASA1<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\uff08p120-RasGAP\uff09\u304cRas\u30b7\u30b0\u30ca\u30eb\u3092\u9069\u5207\u306b\u6291\u5236\u3057\u3001\u8840\u7ba1\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306b\u3088\u308a\u3053\u306e\u6291\u5236\u304c\u5916\u308c\u308b\u3068\u3001\u8840\u7ba1\u5185\u76ae\u7d30\u80de\u304c\u904e\u5270\u306a\u30b7\u30b0\u30ca\u30eb\u3092\u53d7\u3051\u53d6\u308a\u3001\u6bdb\u7d30\u8840\u7ba1\u306e\u62e1\u5f35\u3084\u3001\u52d5\u8108\u3068\u9759\u8108\u306e\u7570\u5e38\u306a\u7d50\u5408\uff08\u77ed\u7d61\uff09\u304c\u5f62\u6210\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong><\/p>\n\n\n\n<p>\u3053\u3053\u304c\u9060\u4f4d\u6b20\u5931\uff08MEF2C\uff09\u3068\u306e\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002<\/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>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u751f\u3059\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u300c\u5c0f\u3055\u306a\u304a\u8179\u306e\u3042\u3056\u300d\u7a0b\u5ea6\u3067\u6c17\u3065\u3044\u3066\u3044\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u5358\u306a\u308b\u3042\u3056\u3060\u3068\u601d\u3063\u3066\u3044\u308b\uff09\u5834\u5408\u304c\u3042\u308a\u3001\u8a73\u3057\u304f\u8a3a\u5bdf\u3059\u308b\u3068<em>RASA1<\/em>\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5074\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>RASA1<\/em>\u3060\u3051\u3067\u306a\u304f\u3001\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u9045\u6ede\u306e\u7a0b\u5ea6\u3084\u3001\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4\uff08\u9854\u8c8c\u306a\u3069\uff09\u306b\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u304c\u751f\u307e\u308c\u307e\u3059\u3002<\/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\u591a\u767a\u3059\u308b\u8d64\u3044\u3042\u3056\u300d\u3084\u300c\u5bb6\u65cf\u6b74\u300d\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>5q14.3\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u4f4d\u7f6e\u304c\u300c\u8fd1\u4f4d\uff08RASA1\u3092\u542b\u3080\uff09\u300d\u306a\u306e\u304b\u300c\u9060\u4f4d\uff08MEF2C\u3092\u542b\u3080\uff09\u300d\u306a\u306e\u304b\u3092\u660e\u78ba\u306b\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u4e88\u5f8c\u306e\u4e88\u6e2c\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ MRA \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u7ba1\u5947\u5f62\u306e\u7cbe\u67fb\u306e\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133MRI\/MRA:<\/strong> \u8133\u5185\u306e\u52d5\u9759\u8108\u5947\u5f62\u3084\u52d5\u8108\u7624\u306e\u6709\u7121\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u9ac4MRI:<\/strong> \u810a\u9ac4\u306e\u8840\u7ba1\u5947\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8d85\u97f3\u6ce2\u691c\u67fb:<\/strong> \u76ae\u4e0b\u306e\u3057\u3053\u308a\u3084\u56db\u80a2\u306e\u8840\u6d41\uff08\u52d5\u9759\u8108\u77ed\u7d61\u306e\u6709\u7121\uff09\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u79d1\u7684\u8a3a\u5bdf:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30c0\u30fc\u30e2\u30b9\u30b3\u30d4\u30fc\u306a\u3069\u3092\u7528\u3044\u3066\u3001\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u306e\u7279\u5fb4\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\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u8840\u7ba1\u5947\u5f62\u306b\u5bfe\u3059\u308b\u7ba1\u7406\u30fb\u6cbb\u7642\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u7ba1\u5947\u5f62\u306e\u7ba1\u7406\uff08\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u6642\u3001\u304a\u3088\u3073\u5b9a\u671f\u7684\u306b\u3001\u8133\u3084\u810a\u9ac4\u306a\u3069\u306b\u5371\u967a\u306a\u8840\u7ba1\u5947\u5f62\u304c\u306a\u3044\u304b\u753b\u50cf\u691c\u67fb\u3067\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\uff08\u982d\u75db\u3001\u795e\u7d4c\u75c7\u72b6\u306a\u3069\uff09\u304c\u51fa\u305f\u5834\u5408\u306f\u901f\u3084\u304b\u306b\u53d7\u8a3a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u75c5\u5909\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9854\u306a\u3069\u306e\u76ee\u7acb\u3064\u5834\u6240\u306b\u3042\u308b\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u306b\u5bfe\u3057\u3066\u306f\u3001**\u30d1\u30eb\u30b9\u8272\u7d20\u30ec\u30fc\u30b6\u30fc\uff08Vbeam\u306a\u3069\uff09**\u306b\u3088\u308b\u7167\u5c04\u6cbb\u7642\u3092\u884c\u3044\u3001\u8272\u3092\u8584\u304f\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u52d5\u9759\u8108\u5947\u5f62\uff08AVM\uff09\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u6d3b\u306b\u652f\u969c\u304c\u3042\u308b\u3001\u307e\u305f\u306f\u51fa\u8840\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u75c5\u5909\u306b\u5bfe\u3057\u3066\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u306b\u3088\u308b<strong>\u585e\u6813\u8853<\/strong>\u3084\u3001\u5916\u79d1\u7684\u5207\u9664\u8853\u3001\u786c\u5316\u7642\u6cd5\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u4e0d\u5168\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u304d\u306a\u52d5\u9759\u8108\u763b\u306b\u3088\u308a\u5fc3\u4e0d\u5168\u306e\u5146\u5019\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5faa\u74b0\u5668\u5185\u79d1\u3067\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u306b\u3088\u308b\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u3067\u3042\u308c\u3070\u7642\u80b2\uff08\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff09\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7fd2\u969c\u5bb3\u306a\u3069\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u500b\u5225\u652f\u63f4\u3092\u691c\u8a0e\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>\u5bb6\u65cf\u5185\u691c\u7d22:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u5fa1\u3055\u3093\u306b\u76ee\u7acb\u305f\u306a\u3044\u3042\u3056\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u89aa\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\uff08\u89aa\u304c\u4fdd\u56e0\u8005\u306a\u308950%\u3001\u7a81\u7136\u5909\u7570\u306a\u3089\u4f4e\u3044\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75be\u60a3\u7406\u89e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c5q14.3\u6b20\u5931\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u91cd\u5ea6\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u300cMEF2C\u95a2\u9023\uff08\u9060\u4f4d\u6b20\u5931\uff09\u300d\u306e\u60c5\u5831\u304c\u51fa\u3066\u304d\u3066\u4e0d\u5b89\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>**\u300c\u8fd1\u4f4d\u6b20\u5931\u300d\u306f\u4e88\u5f8c\u304c\u5168\u304f\u7570\u306a\u308b\uff08\u6bd4\u8f03\u7684\u826f\u597d\u306a\u77e5\u7684\u767a\u9054\u304c\u898b\u8fbc\u3081\u308b\uff09**\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304f\u3053\u3068\u304c\u5927\u5207\u3067\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>5q14.3 deletion (proximal) syndrome\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u8840\u7ba1\u3092\u4f5c\u308b\u305f\u3081\u306e\u53f8\u4ee4\u5854\u3067\u3042\u308bRASA1\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u76ae\u819a\u306b\u5c0f\u3055\u306a\u8d64\u3044\u3042\u3056\u304c\u305f\u304f\u3055\u3093\u3067\u304d\u308b\u3053\u3068\u3067\u3059\u3002\u307e\u305f\u3001\u4f53\u306e\u6df1\u3044\u3068\u3053\u308d\u306e\u8840\u7ba1\u304c\u5c11\u3057\u8907\u96d1\u306a\u3064\u306a\u304c\u308a\u65b9\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u306b\u300c\u67d3\u8272\u4f53\u6b20\u5931\u300d\u3068\u3064\u304f\u3068\u3001\u91cd\u3044\u969c\u5bb3\u3092\u30a4\u30e1\u30fc\u30b8\u3055\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u300c\u8fd1\u4f4d\uff08proximal\uff09\u300d\u30bf\u30a4\u30d7\u306f\u3001\u540c\u3058\u5834\u6240\u306e\u6b20\u5931\u3067\u3082\u300c\u9060\u4f4d\uff08distal\uff09\u300d\u30bf\u30a4\u30d7\u3068\u306f\u5168\u304f\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9060\u4f4d\u30bf\u30a4\u30d7\u304c\u91cd\u3044\u767a\u9054\u306e\u9045\u308c\u3092\u6301\u3064\u306e\u306b\u5bfe\u3057\u3001\u3053\u306e\u8fd1\u4f4d\u30bf\u30a4\u30d7\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u77e5\u7684\u306a\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u3063\u305f\u308a\u3001\u8efd\u5ea6\u306e\u9045\u308c\u306b\u3068\u3069\u307e\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u666e\u901a\u5b66\u7d1a\u306b\u901a\u3044\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u308b\u65b9\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u756a\u5927\u5207\u306a\u30b1\u30a2\u306f\u3001\u300c\u8840\u7ba1\u306e\u7ba1\u7406\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306b\u691c\u67fb\u3092\u53d7\u3051\u3066\u3001\u8133\u3084\u4f53\u306b\u7121\u7406\u306a\u8840\u6d41\u304c\u304b\u304b\u3063\u3066\u3044\u306a\u3044\u304b\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u3067\u3001\u5065\u5eb7\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u76ae\u819a\u306e\u3042\u3056\u3082\u3001\u30ec\u30fc\u30b6\u30fc\u6cbb\u7642\u3067\u304d\u308c\u3044\u306b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u4f53\u8cea\u306f\u89aa\u5fa1\u3055\u3093\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u89aa\u5b50\u3067\u540c\u3058\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u75c5\u6c17\u300d\u3068\u3044\u3046\u3088\u308a\u3082\u3001\u300c\u8840\u7ba1\u304c\u3067\u304d\u3084\u3059\u3044\u4f53\u8cea\u300d\u3068\u6349\u3048\u3001\u9069\u5207\u306a\u30e1\u30f3\u30c6\u30ca\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u8a3a\uff09\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u79d1\u533b\u3001\u5f62\u6210\u5916\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u3001\u3054\u5bb6\u65cf\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\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>Novara, F., et al.<\/strong> (2015). <em>Defining the phenotype associated with 5q14.3 microdeletions: reciprocal genotype-phenotype correlations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q14.3\u9818\u57df\u306e\u6b20\u5931\u3092\u300c\u8fd1\u4f4d\uff08RASA1\u95a2\u9023\uff09\u300d\u3068\u300c\u9060\u4f4d\uff08MEF2C\u95a2\u9023\uff09\u300d\u306b\u660e\u78ba\u306b\u5206\u985e\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u8840\u7ba1\u7570\u5e38 vs \u91cd\u5ea6ID\uff09\u3092\u4f53\u7cfb\u5316\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u7406\u89e3\u306b\u6700\u3082\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Eerola, I., et al.<\/strong> (2003). <em>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bRASA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304cCM-AVM\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u767a\u898b\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Revencu, N., et al.<\/strong> (2013). <em>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5927\u898f\u6a21\u306a\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u306b\u3088\u308a\u3001RASA1\u5909\u7570\/\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\uff08\u76ae\u819a\u75c7\u72b6\u3001AVM\u306e\u30ea\u30b9\u30af\u3001\u795e\u7d4c\u5b66\u7684\u4e88\u5f8c\uff09\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>5q14.3 deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u8fd1\u4f4d\u6b20\u5931\u3068\u9060\u4f4d\u6b20\u5931\u306e\u9055\u3044\u3001\u8840\u7ba1\u5947\u5f62\u306e\u30c1\u30a7\u30c3\u30af\u30dd\u30a4\u30f3\u30c8\u3001\u65e5\u5e38\u751f\u6d3b\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>GeneReviews\u00ae [Internet]<\/strong>: <em>Capillary Malformation-Arteriovenous Malformation Syndrome<\/em>. Initial Posting: 2011. <em>Authors: Bayrak-Toydemir P, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bRASA1\u95a2\u9023\u969c\u5bb3\uff08CM-AVM\uff09\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u67fb\uff09\u9805\u76ee\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<\/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-17095","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\/17095","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17095\/revisions"}],"predecessor-version":[{"id":17097,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17095\/revisions\/17097"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17095"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}