{"id":147986,"date":"2026-11-03T03:47:44","date_gmt":"2026-11-02T18:47:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fg-syndrome-type-4-cask\/"},"modified":"2026-11-03T03:47:44","modified_gmt":"2026-11-02T18:47:44","slug":"fg-syndrome-type-4-cask","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fg-syndrome-type-4-cask\/","title":{"rendered":"FG\u75c7\u5019\u7fa44\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">FG\u75c7\u5019\u7fa44\u578b\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u306e\u5f31\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u306a\u3069\u3092\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3001\u4e3b\u306b\u7537\u306e\u5b50\u306b\u8d77\u3053\u308b\u75c5\u6c17<\/strong>\u3067\u3059\u3002X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001X\u67d3\u8272\u4f53\u306e\u4e0a\u306b\u3042\u308b<strong>CASK<\/strong>\uff08Xp11.4\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u300cFG\u75c7\u5019\u7fa4\u300d\u306f\u3001\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u305f\u3054\u5bb6\u65cf\u306e\u540d\u5b57\u306e\u982d\u6587\u5b57\u304b\u3089\u540d\u4ed8\u3051\u3089\u308c\u307e\u3057\u305f\u3002<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u982d\u304c\u5927\u304d\u3081\u3067\u3042\u308b\u3053\u3068\u3001\u304c\u3093\u3053\u306a\u4fbf\u79d8\u306a\u3069<\/strong>\u3092\u3082\u3064\u75c5\u6c17\u306e\u307e\u3068\u307e\u308a\u3067\u3059\u3002\u305d\u306e\u5f8c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u8907\u6570\u898b\u3064\u304b\u308a\u3001\u578b\u306e\u756a\u53f7\u3067\u5206\u3051\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<strong>4\u578b\u306f\u3001CASK \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u3082\u306e\u3067\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">CASK \u907a\u4f1d\u5b50\u306f\u3001\u5909\u5316\u306e\u7a2e\u985e\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u8907\u6570\u306e\u75c5\u6c17\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<strong>\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u5909\u5316\u3067\u306f\u3001\u5973\u306e\u5b50\u306b\u5c0f\u982d\u75c7\u3068\u8133\u5e79\u30fb\u5c0f\u8133\u306e\u767a\u80b2\u4e0d\u5168\uff08MICPCH\uff09\u304c\u3001\u7537\u306e\u5b50\u306b\u306f\u3055\u3089\u306b\u91cd\u3044\u8133\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u5bfe\u3057FG\u75c7\u5019\u7fa44\u578b\u306f\u3001\u306f\u305f\u3089\u304d\u304c\u4e00\u90e8\u6b8b\u308b\u5909\u5316\u306b\u3088\u3063\u3066\u7537\u306e\u5b50\u306b\u8d77\u3053\u308b\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u5074\u306e\u578b\u3067\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306f\u307e\u3060\u5c11\u306a\u304f\u3001\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CASK<\/strong> \u306f\u3001\u795e\u7d4c\u7d30\u80de\u3069\u3046\u3057\u306e\u3064\u306a\u304e\u76ee\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u3067<strong>\u307b\u304b\u306e\u305f\u3093\u3071\u304f\u8cea\u3092\u307e\u3068\u3081\u3066\u6b63\u3057\u3044\u4f4d\u7f6e\u306b\u4e26\u3079\u308b\u300c\u8db3\u5834\u300d\u306e\u5f79\u5272<\/strong>\u3092\u3082\u3064\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u307e\u305f\u3001\u7d30\u80de\u306e\u6838\u306e\u306a\u304b\u3067\u3001\u8133\u304c\u80b2\u3064\u3068\u304d\u306b\u306f\u305f\u3089\u304f\u907a\u4f1d\u5b50\u306e\u8abf\u7bc0\u306b\u3082\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">FG\u75c7\u5019\u7fa44\u578b\u3067\u306f\u3001CASK 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class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u75c7\u72b6\u306e\u7a2e\u985e\u3084\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u3067\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u306e\u9045\u308c<\/strong>\uff1a<strong>\u3053\u306e\u75c5\u6c17\u306e\u3082\u3063\u3068\u3082\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059<\/strong>\u3002\u7a0b\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\uff1a\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u3001\u9996\u3059\u308f\u308a\u3084\u304a\u3059\u308f\u308a\u3001\u6b69\u304d\u59cb\u3081\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3053\u3068\u3070\u306e\u9045\u308c<\/strong><\/li>\n\n\n\n<li><strong>\u982d\u304c\u5927\u304d\u3081\u3001\u5e83\u304f\u9ad8\u3044\u304a\u3067\u3053<\/strong>\uff1aFG\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3067\u307f\u3089\u308c\u305f\u7279\u5fb4\u3067\u3059<\/li>\n\n\n\n<li>\u304c\u3093\u3053\u306a\u4fbf\u79d8<\/li>\n\n\n\n<li><strong>\u76ee\u304c\u7d30\u304b\u304f\u63fa\u308c\u308b\uff08\u773c\u632f\uff09<\/strong>\uff1aCASK 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class=\"wp-block-paragraph\"><strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u306f\u3063\u304d\u308a\u3057\u305f\u7570\u5e38\u304c\u307f\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u3001\u9996\u3059\u308f\u308a\u3084\u3053\u3068\u3070\u306e\u9045\u308c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304b\u3089\u6c17\u3065\u304b\u308c\u307e\u3059\u3002\u8133\u306eMRI\u691c\u67fb\u3067\u3001\u8133\u5e79\u3084\u5c0f\u8133\u306e\u5927\u304d\u3055\u306a\u3069\u8133\u306e\u5f62\u3092\u78ba\u8a8d\u3057\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\u3001FG\u75c7\u5019\u7fa44\u578b\u3067\u306f <strong>CASK<\/strong> 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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001<strong>\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u7642\u80b2\u30fb\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u3067\u3001\u904b\u52d5\u3084\u3053\u3068\u3070\u3001\u751f\u6d3b\u306e\u529b\u3092\u4f38\u3070\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4fbf\u79d8\u306e\u6cbb\u7642<\/strong>\uff1a\u98df\u4e8b\u306e\u5de5\u592b\u3084\u304a\u85ac\u3067\u8abf\u6574\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/strong>\uff1a\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u767a\u9054\u3001\u76ee\uff08\u773c\u632f\u30fb\u8996\u529b\uff09\u3001\u6210\u9577\u3092\u7d99\u7d9a\u3057\u3066\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u30fb\u798f\u7949\u306e\u652f\u63f4<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u5b66\u3073\u306e\u5834\u3084\u3001\u798f\u7949\u5236\u5ea6\u306e\u5229\u7528\u3092\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/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>CASK<\/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>CASK<\/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\">X\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u306e2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\uff08\u5973\u306e\u5b50\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\uff09\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>CASK<\/strong>\uff08calcium\/calmodulin-dependent serine protein kinase\uff09\u306f<strong>MAGUK\uff08\u819c\u7d50\u5408\u578b\u30b0\u30a2\u30cb\u30eb\u9178\u30ad\u30ca\u30fc\u30bc\uff09\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u8db3\u5834\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3042\u308b\u3002\u30b7\u30ca\u30d7\u30b9\u524d\u90e8\u3067\u30cb\u30e5\u30fc\u30ec\u30ad\u30b7\u30f3\u3001Mint1\u3001Veli \u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3059\u308b\u307b\u304b\u3001\u6838\u5185\u3067\u306f\u8ee2\u5199\u56e0\u5b50 TBR1 \u3068\u5354\u8abf\u3057\u3066\u767a\u751f\u671f\u306e\u8133\u3067\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u306b\u95a2\u4e0e\u3059\u308b\u3002Xp11.4 \u306b\u4f4d\u7f6e\u3057\u3001\u5973\u6027\u3067\u306fX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u3092\u53d7\u3051\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>CASK \u95a2\u9023\u75be\u60a3\u306f\u3001\u6b8b\u5b58\u6a5f\u80fd\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u308a\u9023\u7d9a\u3057\u305f\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u5f62\u6210\u3059\u308b<\/strong>\u2014\u2014\u91cd\u75c7\u7aef\u304b\u3089\u9806\u306b\u3001<strong>\u2460\u7537\u6027\u306e\u6a5f\u80fd\u55aa\u5931\u5909\u7570\uff08\u91cd\u5ea6\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u5c0f\u982d\u75c7\u3068\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\u3001\u4e73\u5150\u671f\u6b7b\u4ea1\u3082\u3042\u308b\uff09\u3001\u2461\u5973\u6027\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6a5f\u80fd\u55aa\u5931\u5909\u7570\uff08\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3001\u9032\u884c\u6027\u5c0f\u982d\u75c7\u3068\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\u3092\u4f34\u3046 MICPCH\uff09\u3001\u2462\u7537\u6027\u306e\u90e8\u5206\u7684\u6a5f\u80fd\u4f4e\u4e0b\uff08\u30df\u30b9\u30bb\u30f3\u30b9\u30fb\u30b9\u30d7\u30e9\u30a4\u30b9\u5909\u7570\uff09\u306b\u3088\u308b X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u773c\u632f\u306e\u6709\u7121\u3092\u554f\u308f\u306a\u3044\uff09\u304a\u3088\u3073 FG\u75c7\u5019\u7fa44\u578b<\/strong>\u3068\u306a\u308b\u3002FG\u75c7\u5019\u7fa44\u578b\u306f\u30a4\u30bf\u30ea\u30a2\u306e FG\u75c7\u5019\u7fa4\u5bb6\u7cfb\u3067 CASK \u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u5b9a\u7fa9\u3055\u308c\u3001\u3053\u306e\u5909\u7570\u306f\u6b63\u5e38\u8ee2\u5199\u7523\u7269\u306e\u6e1b\u5c11\u3092\u4f34\u3046\u90e8\u5206\u7684\u6a5f\u80fd\u4f4e\u4e0b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<strong>\u2462\u306e\u75c5\u578b\u3067\u306f\u4fdd\u56e0\u5973\u6027\u306f\u7121\u75c7\u72b6\u301c\u8efd\u75c7\u306e\u3053\u3068\u304c\u591a\u304f\u3001\u5bb6\u7cfb\u5185\u3067\u7537\u6027\u306b\u767a\u75c7\u304c\u96c6\u7a4d\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001FG\u75c7\u5019\u7fa41\u578b\uff08<em>MED12<\/em>\uff09\u3001FG\u75c7\u5019\u7fa42\u578b\uff08<em>FLNA<\/em>\uff09\u3001\u305d\u306e\u307b\u304b\u306e X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\uff08<em>FMR1<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u300cFG\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u81e8\u5e8a\u8a3a\u65ad\u306f\u7279\u7570\u6027\u304c\u4f4e\u304f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u591a\u69d8\u3067\u3042\u308b\u305f\u3081\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u540d\u306b\u57fa\u3065\u304f\u8a3a\u65ad\uff08CASK \u95a2\u9023\u75be\u60a3\uff09\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/strong>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u7537\u5150\u306e\u518d\u767a\u7387\u306f50%\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308c\u3070\u518d\u767a\u7387\u306f\u4f4e\u3044\u304c\u3001\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u3092\u8003\u616e\u3057\u3066\u30bc\u30ed\u3068\u306f\u3057\u306a\u3044\u3002<\/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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u307e\u306b\u65b0\u3057\u304f\u8d77\u3053\u3063\u305f\u5909\u5316\u306e\u5834\u5408\u306f\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u30bc\u30ed\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u304a\u6bcd\u3055\u307e\u306e\u691c\u67fb\u3067\u3001\u3069\u3061\u3089\u306b\u3042\u305f\u308b\u304b\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306e\u5909\u5316\u3092\u53d7\u3051\u7d99\u3044\u3060\u5973\u306e\u5b50\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u3001\u75c7\u72b6\u304c\u306a\u3044\u304b\u8efd\u3044\u7a0b\u5ea6\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001CASK \u306e\u306f\u305f\u3089\u304d\u304c\u5927\u304d\u304f\u5931\u308f\u308c\u308b\u5225\u306e\u7a2e\u985e\u306e\u5909\u5316\u3067\u306f\u3001\u5973\u306e\u5b50\u3067\u3082\u5c0f\u982d\u75c7\u306a\u3069\u3092\u4f34\u3046\u5225\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u304c\u9055\u3046\u305f\u3081\u3001\u8a73\u3057\u304f\u306f\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. \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\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u5c11\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u3059\u3067\u306b\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u304c\u308f\u304b\u3063\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. \u6210\u9577\u3059\u308b\u3068\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u7d9a\u304d\u307e\u3059\u304c\u3001\u7642\u80b2\u3084\u6559\u80b2\u306e\u652f\u63f4\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u3055\u307e\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u767a\u9054\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u9577\u3044\u7d4c\u904e\u306b\u3064\u3044\u3066\u306f\u307e\u3060\u5341\u5206\u306b\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3092\u7d9a\u3051\u3001\u305d\u306e\u6642\u3005\u306b\u5fc5\u8981\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>Moog U, Kutsche K. CASK Disorders. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #300422 FG syndrome 4; FGS4. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Piluso G, Carella M, et al. A missense mutation in CASK causes FG syndrome in an Italian family. <em>Am J Hum Genet<\/em>. 2009;84(2):162-177.<\/li>\n\n\n\n<li>Najm J, Horn D, Wimplinger I, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. <em>Nat Genet<\/em>. 2008;40(9):1065-1067.<\/li>\n\n\n\n<li>Hackett A, Tarpey PS, Licata A, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. <em>Eur J Hum Genet<\/em>. 2010;18(5):544-552.<\/li>\n\n\n\n<li>Moog U, Kort\u00fcm F, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. <em>J Med Genet<\/em>. 2011;48(11):741-751.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147986","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\/147986","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\/147986\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147986"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}