{"id":147342,"date":"2026-11-03T03:46:11","date_gmt":"2026-11-02T18:46:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/coach-syndrome-2-cc2d2a\/"},"modified":"2026-11-03T03:46:11","modified_gmt":"2026-11-02T18:46:11","slug":"coach-syndrome-2-cc2d2a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/coach-syndrome-2-cc2d2a\/","title":{"rendered":"COACH\u75c7\u5019\u7fa42\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">COACH\u75c7\u5019\u7fa42\u578b\u306f\u3001<strong>\u5c0f\u8133\u306e\u767a\u9054\u4e0d\u5168\u306b\u3088\u308b\u904b\u52d5\u30fb\u767a\u9054\u306e\u9045\u308c\u306b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u809d\u81d3\u306e\u7dda\u7dad\u5316\uff08\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7\uff09\u304c\u52a0\u308f\u308b\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u30014\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b <strong>CC2D2A<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u300cCOACH\u300d\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u4e3b\u306a\u7279\u5fb4\u306e\u82f1\u8a9e\u306e\u982d\u6587\u5b57\u3067\u3059\u3002<strong>\u5c0f\u8133\u866b\u90e8\u306e\u4f4e\u5f62\u6210\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u904b\u52d5\u5931\u8abf\uff08\u3075\u3089\u3064\u304d\uff09\u3001\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u773c\u306e\u7d44\u7e54\u306e\u4e00\u90e8\u306e\u6b20\u3051\uff09\u3001\u809d\u7dda\u7dad\u75c7<\/strong>\u3092\u8868\u3057\u307e\u3059\u3002\u8133\u306e\u7279\u5fb4\u306f\u300c\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u300d\u3068\u540c\u3058\u3067\u3001<strong>COACH\u75c7\u5019\u7fa4\u306f\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u3046\u3061\u809d\u81d3\u306e\u75c5\u6c17\u3092\u3068\u3082\u306a\u3046\u30bf\u30a4\u30d7<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">CC2D2A 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\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CC2D2A<\/strong> \u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b1\u672c\u3060\u3051\u751f\u3048\u3066\u3044\u308b<strong>\u300c\u4e00\u6b21\u7e4a\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u300d\u3068\u3044\u3046\u5c0f\u3055\u306a\u30a2\u30f3\u30c6\u30ca\u306e\u6839\u5143\u3067\u306f\u305f\u3089\u304f\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4e00\u6b21\u7e4a\u6bdb\u306f\u3001\u7d30\u80de\u304c\u5468\u308a\u304b\u3089\u306e\u4fe1\u53f7\u3092\u53d7\u3051\u53d6\u308b\u305f\u3081\u306e\u5927\u5207\u306a\u5668\u5b98\u3067\u3001<strong>\u8133\u30fb\u773c\u30fb\u809d\u81d3\u30fb\u814e\u81d3\u306a\u3069\u306e\u767a\u9054\u306b\u6b20\u304b\u305b\u307e\u305b\u3093<\/strong>\u3002CC2D2A 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class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u30fb\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\uff1a\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u3001\u9996\u306e\u3059\u308f\u308a\u306a\u3069\u304c\u9045\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u30ea\u30ba\u30e0\u306e\u4e71\u308c<\/strong>\uff1a\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u306b\u3001\u901f\u3044\u547c\u5438\u3068\u547c\u5438\u304c\u6b62\u307e\u308b\u6642\u9593\u3092\u304f\u308a\u8fd4\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059<\/li>\n\n\n\n<li><strong>\u773c\u306e\u52d5\u304d\u306e\u7570\u5e38<\/strong>\uff1a\u773c\u304c\u63fa\u308c\u308b\uff08\u773c\u632f\uff09\u3001\u898b\u305f\u3044\u65b9\u5411\u3078\u773c\u3092\u3046\u307e\u304f\u52d5\u304b\u305b\u306a\u3044\u306a\u3069<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u3068\u904b\u52d5\u5931\u8abf<\/strong>\uff1a\u6b69\u304d\u59cb\u3081\u304c\u9045\u304f\u3001\u3075\u3089\u3064\u304d\u304c\u7d9a\u304d\u307e\u3059\u3002\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306e\u7a0b\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de<\/strong>\uff1a\u7db2\u819c\u3084\u8996\u795e\u7d4c\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3001\u898b\u3048\u65b9\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7<\/strong>\uff1a<strong>\u3053\u306e\u75c5\u6c17\u306e\u898b\u901a\u3057\u3092\u5de6\u53f3\u3059\u308b\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059<\/strong>\u3002\u809d\u81d3\u304c\u786c\u304f\u306a\u308a\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\uff08\u809d\u81d3\u3078\u5411\u304b\u3046\u8840\u7ba1\u306e\u5727\u304c\u9ad8\u304f\u306a\u308b\u72b6\u614b\uff09\u3001\u813e\u81d3\u306e\u816b\u308c\u3001\u98df\u9053\u9759\u8108\u7624\u304b\u3089\u306e\u51fa\u8840\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u75c5\u6c17\uff08\u30cd\u30d5\u30ed\u30f3\u7646\u306a\u3069\uff09\u3092\u3068\u3082\u306a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>CC2D2A \u304c\u539f\u56e0\u306e\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3067\u306f\u3001<strong>\u8133\u5ba4\u306e\u62e1\u5927\u3084\u3051\u3044\u308c\u3093\u767a\u4f5c<\/strong>\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306f<strong>\u982d\u90e8MRI\u691c\u67fb<\/strong>\u3067\u3059\u3002\u5c0f\u8133\u866b\u90e8\u304c\u5c0f\u3055\u304f\u3001\u8133\u5e79\u306e\u5f62\u304c\u5909\u5316\u3059\u308b\u305f\u3081\u3001\u65ad\u9762\u304c\u5965\u6b6f\u306e\u3088\u3046\u306b\u898b\u3048\u308b<strong>\u300c\u81fc\u6b6f\u5fb4\u5019\uff08\u30e2\u30e9\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u30fb\u30b5\u30a4\u30f3\uff09\u300d<\/strong>\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3066\u3001<strong>\u8840\u6db2\u691c\u67fb\u3067\u306e\u809d\u6a5f\u80fd\u306e\u7570\u5e38\u3001\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u809d\u81d3\u30fb\u813e\u81d3\u306e\u816b\u308c<\/strong>\u306a\u3069\u304b\u3089\u809d\u7dda\u7dad\u75c7\u304c\u898b\u3064\u304b\u308b\u3068\u3001COACH\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002\u773c\u79d1\u306e\u8a3a\u5bdf\u3067\u30b3\u30ed\u30dc\u30fc\u30de\u306e\u6709\u7121\u3092\u3001\u814e\u81d3\u306e\u691c\u67fb\u3067\u814e\u81d3\u306e\u75c5\u6c17\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u80ce\u5150MRI\u3067\u3001\u8133\u5ba4\u306e\u62e1\u5927\u3084\u5f8c\u982d\u90e8\u306e\u8133\u306e\u5f62\u306e\u5909\u5316\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u598a\u5a20\u4e2d\u306b\u306f\u6c17\u3065\u304b\u308c\u305a\u3001\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u307e\u305f\u809d\u7dda\u7dad\u75c7\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u306f\u306f\u3063\u304d\u308a\u305b\u305a\u3001\u6210\u9577\u3057\u3066\u304b\u3089\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001COACH\u75c7\u5019\u7fa42\u578b\u3067\u306f <strong>CC2D2A<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u809d\u81d3\u30fb\u814e\u81d3\u306e\u898b\u901a\u3057\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u3088\u308a\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u3001<strong>\u5c0f\u5150\u79d1\u30fb\u795e\u7d4c\u79d1\u30fb\u773c\u79d1\u30fb\u6d88\u5316\u5668\u79d1\uff08\u809d\u81d3\uff09\u30fb\u814e\u81d3\u5185\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u7d99\u7d9a\u7684\u306b\u8a3a\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u306e\u898b\u5b88\u308a<\/strong>\uff1a\u4e73\u5150\u671f\u306e\u547c\u5438\u306e\u4e71\u308c\u306b\u5bfe\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u547c\u5438\u306e\u76e3\u8996\u3084\u88dc\u52a9\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u7642\u80b2\u3084\u5b66\u6821\u3067\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u306e\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3068\u6cbb\u7642<\/strong>\uff1a\u98df\u9053\u9759\u8108\u7624\u306b\u5bfe\u3059\u308b\u5185\u8996\u93e1\u6cbb\u7642\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\u3078\u306e\u6cbb\u7642\u3092\u884c\u3044\u3001\u809d\u81d3\u306e\u306f\u305f\u3089\u304d\u304c\u5927\u304d\u304f\u4f4e\u4e0b\u3057\u305f\u5834\u5408\u306f\u809d\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u8996\u529b\u306e\u8a55\u4fa1\u3068\u3001\u898b\u3048\u65b9\u306b\u5408\u308f\u305b\u305f\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u5b9a\u671f\u7684\u306a\u691c\u67fb<\/strong>\uff1a\u814e\u81d3\u306e\u75c5\u6c17\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u305d\u306e\u6cbb\u7642<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642<\/strong><\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>CC2D2A<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>CC2D2A<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CC2D2A<\/strong> \u306fC2\u30c9\u30e1\u30a4\u30f3\u3068\u30b3\u30a4\u30eb\u30c9\u30b3\u30a4\u30eb\u69cb\u9020\u3092\u3082\u3064\u305f\u3093\u3071\u304f\u8cea\u3067\u3001<strong>\u4e00\u6b21\u7e4a\u6bdb\u306e\u79fb\u884c\u5e2f\uff08transition zone\uff09\u306b\u5c40\u5728\u3057\u3001MKS\u8907\u5408\u4f53\u306e\u69cb\u6210\u8981\u7d20\u3068\u3057\u3066\u7e4a\u6bdb\u3078\u306e\u819c\u305f\u3093\u3071\u304f\u8cea\u306e\u51fa\u5165\u308a\u3092\u5236\u5fa1\u3059\u308b<\/strong>\u3002CEP290 \u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u79fb\u884c\u5e2f\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u5c0f\u8133\u30fb\u8133\u5e79\u306e\u767a\u751f\u3001\u80c6\u7ba1\u677f\u306e\u5f62\u6210\u3001\u814e\u5c3f\u7d30\u7ba1\u306e\u7dad\u6301\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u907a\u4f1d\u5b50\u306f\u660e\u78ba\u306a\u907a\u4f1d\u5b50\u578b\u30fb\u8868\u73fe\u578b\u76f8\u95a2\u3092\u793a\u3059<\/strong>\u2014\u2014<strong>\u4e21\u30a2\u30ec\u30eb\u3068\u3082\u6a5f\u80fd\u55aa\u5931\u578b\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u30fb\u30b9\u30d7\u30e9\u30a4\u30b9\u5909\u7570\uff09\u306e\u5834\u5408\u306f\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa46\u578b\uff08\u5f8c\u982d\u90e8\u8133\u7624\u3001\u56a2\u80de\u814e\u3001\u591a\u6307\u75c7\u3001\u80c6\u7ba1\u677f\u5f62\u6210\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u5468\u7523\u671f\u81f4\u6b7b\uff09\u3068\u306a\u308a\u3001\u5c11\u306a\u304f\u3068\u3082\u4e00\u65b9\u304c\u30df\u30b9\u30bb\u30f3\u30b9\u306a\u3069\u6b8b\u5b58\u6a5f\u80fd\u3092\u4fdd\u3064\u5909\u7570\u306e\u5834\u5408\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa49\u578b\u307e\u305f\u306fCOACH\u75c7\u5019\u7fa42\u578b\u3068\u306a\u308b<\/strong>\u3002COACH\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u3057\u3066\u306f TMEM67 \u304c\u3082\u3063\u3068\u3082\u591a\u304f\u3001CC2D2A \u3068 RPGRIP1L \u306f\u305d\u308c\u306b\u6b21\u3050\u3002<strong>CC2D2A \u95a2\u9023\u306e\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3067\u306f\u8133\u5ba4\u62e1\u5927\u3068\u3051\u3044\u308c\u3093\u306e\u983b\u5ea6\u304c\u9ad8\u3044<\/strong>\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u809d\u75c5\u5909\u306f\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7\uff08\u80c6\u7ba1\u677f\u5f62\u6210\u7570\u5e38\uff09\u3067\u3042\u308a\u3001<strong>\u809d\u7d30\u80de\u6a5f\u80fd\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u4e00\u65b9\u3067\u9580\u8108\u5727\u4ea2\u9032\u75c7\u304c\u524d\u666f\u306b\u7acb\u3064<\/strong>\u3002\u809d\u7dda\u7dad\u75c7\u306f\u5c0f\u5150\u671f\u4ee5\u964d\u306b\u9855\u5728\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5168\u4f8b\u3067\u809d\u6a5f\u80fd\u3068\u8179\u90e8\u8d85\u97f3\u6ce2\u306e\u5b9a\u671f\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u308b<\/strong>\u3002\u9451\u5225\u306b\u306f\u4ed6\u306e COACH \u75c7\u5019\u7fa4\uff08TMEM67\u3001RPGRIP1L\uff09\u3001\u809d\u75c5\u5909\u306e\u306a\u3044\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001\u307b\u304b\u306e\u7e4a\u6bdb\u75c5\uff08\u30cd\u30d5\u30ed\u30f3\u7646\u95a2\u9023\u75be\u60a3\u306a\u3069\uff09\u304c\u6319\u304c\u308a\u3001<strong>\u3044\u305a\u308c\u3082\u6f5c\u6027\u907a\u4f1d\u304c\u4e2d\u5fc3\u3060\u304c\u3001\u8868\u73fe\u578b\u306e\u91cd\u3055\u3068\u81d3\u5668\u5408\u4f75\u75c7\u306e\u898b\u901a\u3057\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u8a08\u753b\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u3067\u78ba\u7387\u306b\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308b\u78ba\u7387\u306f2\u5206\u306e1\u3001\u5909\u5316\u3092\u53d7\u3051\u7d99\u304c\u306a\u3044\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u80ce\u5150MRI\u3067\u8133\u306e\u5909\u5316\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u598a\u5a20\u4e2d\u306b\u306f\u5206\u304b\u3089\u305a\u3001\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u3082\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>CC2D2A \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u6b8b\u3063\u3066\u3044\u308b\u306f\u305f\u3089\u304d\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u306f\u305f\u3089\u304d\u304c\u307b\u3068\u3093\u3069\u6b8b\u3089\u306a\u3044\u5834\u5408\u306f\u80ce\u5150\u671f\u30fb\u65b0\u751f\u5150\u671f\u306b\u547d\u306b\u304b\u304b\u308f\u308b\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa46\u578b\u306b\u3001\u306f\u305f\u3089\u304d\u304c\u4e00\u90e8\u6b8b\u308b\u5834\u5408\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa49\u578b\u3084\u3053\u306eCOACH\u75c7\u5019\u7fa42\u578b\u306b\u306a\u308a\u307e\u3059\u30022\u578b\u3067\u306f<strong>\u809d\u81d3\u306e\u75c5\u6c17\u3092\u3068\u3082\u306a\u3046<\/strong>\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u809d\u81d3\u306e\u75c5\u6c17\u306f\u3044\u3064\u3054\u308d\u51fa\u3066\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u809d\u7dda\u7dad\u75c7\u306f\u751f\u307e\u308c\u3064\u304d\u3042\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u6642\u671f\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u4e73\u5e7c\u5150\u671f\u306b\u306f\u76ee\u7acb\u305f\u305a\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u5206\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u304c\u306a\u304f\u3066\u3082\u5b9a\u671f\u7684\u306b\u8840\u6db2\u691c\u67fb\u3084\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u65e9\u3081\u306b\u6c17\u3065\u304f\u3053\u3068\u3067\u3001\u98df\u9053\u9759\u8108\u7624\u304b\u3089\u306e\u51fa\u8840\u306a\u3069\u306b\u5099\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Doherty D, Parisi MA, Finn LS, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). <em>J Med Genet<\/em>. 2010;47(1):8-21.<\/li>\n\n\n\n<li>Gorden NT, Arts HH, Parisi MA, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. <em>Am J Hum Genet<\/em>. 2008;83(5):559-571.<\/li>\n\n\n\n<li>Tallila J, Jakkula E, Peltonen L, Salonen R, Kestil\u00e4 M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. <em>Am J Hum Genet<\/em>. 2008;82(6):1361-1367.<\/li>\n\n\n\n<li>Bachmann-Gagescu R, Ishak GE, Dempsey JC, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. <em>J Med Genet<\/em>. 2012;49(2):126-137.<\/li>\n\n\n\n<li>Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. <em>Lancet Neurol<\/em>. 2013;12(9):894-905.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147342","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147342","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147342\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147342"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}