{"id":147615,"date":"2026-11-03T03:46:51","date_gmt":"2026-11-02T18:46:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/al-kaissi-syndrome-cdk10\/"},"modified":"2026-11-03T03:46:51","modified_gmt":"2026-11-02T18:46:51","slug":"al-kaissi-syndrome-cdk10","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/al-kaissi-syndrome-cdk10\/","title":{"rendered":"\u30a2\u30eb\u30ab\u30a4\u30b7\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30a2\u30eb\u30ab\u30a4\u30b7\u75c7\u5019\u7fa4\u306f\u3001<strong>\u4f53\u306e\u6210\u9577\u304c\u5f37\u304f\u9045\u308c\u308b\u3053\u3068\u3001\u80cc\u9aa8\uff08\u3068\u304f\u306b\u9996\u306e\u9aa8\uff09\u306e\u5f62\u306e\u7570\u5e38\u3001\u767a\u9054\u306e\u9045\u308c<\/strong>\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u3001\u305f\u3044\u3078\u3093\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>CDK10<\/strong>\uff0816q24.3\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\">\u3053\u306e\u75c5\u6c17\u306f2017\u5e74\u306b\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75c5\u6c17\u3067\u3001<strong>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306f\u4e16\u754c\u3067\u3082\u3054\u304f\u308f\u305a\u304b\u3067\u3059<\/strong>\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u306e\u5e45\u3084\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u3001<strong>\u307e\u3060\u5206\u304b\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u75c5\u540d\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u5831\u544a\u3057\u305f\u533b\u5e2b\u306e\u540d\u524d\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">CDK10 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class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CDK10<\/strong> \u306f\u3001<strong>\u7d30\u80de\u306e\u306a\u304b\u3067\u307b\u304b\u306e\u305f\u3093\u3071\u304f\u8cea\u306b\u76ee\u5370\uff08\u30ea\u30f3\u9178\uff09\u3092\u3064\u3051\u3066\u3001\u305d\u306e\u306f\u305f\u3089\u304d\u3092\u8abf\u7bc0\u3059\u308b\u9175\u7d20<\/strong>\u3067\u3059\u3002\u30b5\u30a4\u30af\u30ea\u30f3M\u3068\u7d44\u306b\u306a\u3063\u3066\u521d\u3081\u3066\u306f\u305f\u3089\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">CDK10 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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<p class=\"wp-block-paragraph\">\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f37\u3044\u6210\u9577\u306e\u9045\u308c<\/strong>\uff1a\u8eab\u9577\u30fb\u4f53\u91cd\u304c\u4f38\u3073\u306b\u304f\u304f\u3001<strong>\u3053\u306e\u75c5\u6c17\u306e\u3082\u3063\u3068\u3082\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u5f62\u306e\u7570\u5e38<\/strong>\uff1a\u3068\u304f\u306b<strong>\u9996\u306e\u9aa8\uff08\u9838\u690e\uff09\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u3001\u5f62\u304c\u4e0d\u5b8c\u5168\u3067\u3042\u308b<\/strong>\u306a\u3069\u306e\u5909\u5316\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff1a\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/li>\n\n\n\n<li>\u982d\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u624b\u6307\u306a\u3069\u3001\u305d\u306e\u307b\u304b\u306e\u9aa8\u683c\u306e\u5c0f\u3055\u306a\u5909\u5316\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\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\">\u4e73\u5e7c\u5150\u671f\u306e<strong>\u6210\u9577\u306e\u9045\u308c\u3001\u767a\u9054\u306e\u9045\u308c<\/strong>\u3092\u304d\u3063\u304b\u3051\u306b\u3001<strong>X\u7dda\u691c\u67fb\u3067\u80cc\u9aa8\uff08\u3068\u304f\u306b\u9996\u306e\u9aa8\uff09\u306e\u5f62\u306e\u7570\u5e38<\/strong>\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3067\u7591\u308f\u308c\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8d64\u3061\u3083\u3093\u306e\u5c0f\u3055\u3055\u3092\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u75c7\u72b6\u3060\u3051\u3067\u306f\u4f3c\u305f\u75c5\u6c17\u3068\u306e\u533a\u5225\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30a2\u30eb\u30ab\u30a4\u30b7\u75c7\u5019\u7fa4\u3067\u306f <strong>CDK10<\/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>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\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>\u6cbb\u7642\u306f\u3001<strong>\u304a\u4e00\u4eba\u304a\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u3068\u6804\u990a\u306e\u7ba1\u7406<\/strong>\uff1a\u5b9a\u671f\u7684\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6804\u990a\u306e\u76f8\u8ac7\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\uff1a\u9996\u306e\u9aa8\u306e\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6574\u5f62\u5916\u79d1\u3067\u7d4c\u904e\u3092\u898b\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5bfe\u5fdc\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u7642\u80b2\u3092\u3001\u65e9\u3044\u6642\u671f\u304b\u3089\u53d6\u308a\u5165\u308c\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\u5229\u7528\u3067\u304d\u308b\u5236\u5ea6\u306b\u3064\u3044\u3066\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\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>CDK10<\/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>CDK10<\/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\">\u30a2\u30eb\u30ab\u30a4\u30b7\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306e\u305f\u3081\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>CDK10<\/strong> \u306fCDC2\u95a2\u9023\u306e\u30bb\u30ea\u30f3\uff0f\u30b9\u30ec\u30aa\u30cb\u30f3\u30ad\u30ca\u30fc\u30bc\u3067\u3001<strong>\u30b5\u30a4\u30af\u30ea\u30f3M\uff08<em>CCNQ<\/em> \u907a\u4f1d\u5b50\u7523\u7269\uff09\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3066\u521d\u3081\u3066\u30ad\u30ca\u30fc\u30bc\u6d3b\u6027\u3092\u793a\u3059<\/strong>\u3002CDK10\uff0f\u30b5\u30a4\u30af\u30ea\u30f3M\u306f\u8ee2\u5199\u56e0\u5b50 ETS2 \u3092\u30ea\u30f3\u9178\u5316\u3057\u3066\u305d\u306e\u5206\u89e3\u3092\u4fc3\u3059\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002\u3055\u3089\u306b<strong>\u4e00\u6b21\u7e4a\u6bdb\u306e\u5f62\u6210\u3068\u9577\u3055\u3092\u6291\u5236\u7684\u306b\u5236\u5fa1<\/strong>\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306f\u7e4a\u6bdb\u5f62\u6210\u306e\u7570\u5e38\u3092\u3082\u305f\u3089\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>2017\u5e74\u3001\u8907\u6570\u306e\u5bb6\u7cfb\u3067 CDK10 \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u3001\u672c\u75c7\u5019\u7fa4\uff08OMIM #617694\uff09\u304c\u78ba\u7acb\u3055\u308c\u305f<\/strong>\u3002\u60a3\u8005\u7531\u6765\u7dda\u7dad\u82bd\u7d30\u80de\u3067\u306f\u7e4a\u6bdb\u306e\u5ef6\u9577\u3068\u7e4a\u6bdb\u30b7\u30b0\u30ca\u30eb\u306e\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u3001<strong>Cdk10 \u6b20\u640d\u30de\u30a6\u30b9\u3067\u3082\u91cd\u5ea6\u306e\u6210\u9577\u969c\u5bb3\u3068\u9aa8\u683c\u7570\u5e38\u304c\u518d\u73fe\u3055\u308c\u305f<\/strong>\u3002\u4e2d\u6838\u3068\u306a\u308b\u8868\u73fe\u578b\u306f\u3001<strong>\u91cd\u5ea6\u306e\u6210\u9577\u969c\u5bb3\u3001\u9838\u690e\u3092\u4e2d\u5fc3\u3068\u3059\u308b\u810a\u690e\u306e\u5f62\u6210\u7570\u5e38\uff08\u690e\u4f53\u7652\u5408\u306a\u3069\uff09\u3001\u767a\u9054\u9045\u6ede\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u9854\u8c8c\u306e\u7279\u5fb4<\/strong>\u3067\u3042\u308b\u3002\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u305f\u3081\u3001\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3084\u81ea\u7136\u6b74\u306f\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u30d1\u30fc\u30c8\u30ca\u30fc\u5206\u5b50\u306e\u7570\u5e38\u3068\u306e\u5bfe\u6bd4\u304c\u91cd\u8981\u3067\u3042\u308b<\/strong>\u2014\u2014<em>CCNQ<\/em> \u306e\u6a5f\u80fd\u55aa\u5931\u306fSTAR\u75c7\u5019\u7fa4\uff08\u8db3\u8dbe\u5408\u6307\u75c7\u30fb\u5185\u773c\u89d2\u96e2\u958b\u30fb\u809b\u9580\u6027\u5668\u5947\u5f62\u30fb\u814e\u5947\u5f62\uff09\u3092\u8d77\u3053\u3057\u3001<strong>X\u9023\u9396\u9855\u6027\u3067\u4e3b\u306b\u5973\u6027\u306b\u767a\u75c7\u3059\u308b<\/strong>\u3002\u8868\u73fe\u578b\u306f CDK10 \u6b20\u640d\u3068\u91cd\u306a\u3089\u306a\u3044\u90e8\u5206\u304c\u5927\u304d\u3044\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30af\u30ea\u30c3\u30da\u30eb\u30fb\u30d5\u30a1\u30a4\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u306e\u9838\u690e\u7652\u5408\u3092\u4f34\u3046\u75be\u60a3\u3001\u810a\u690e\u808b\u9aa8\u7570\u9aa8\u75c7\u3001\u6210\u9577\u969c\u5bb3\u3068\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u4ed6\u306e\u7e4a\u6bdb\u75c5\u30fb\u75c7\u5019\u7fa4\u6027\u4f4e\u8eab\u9577\u304c\u6319\u304c\u308b\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u308a\u6b21\u5b50\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\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>\u6210\u9577\u306e\u9045\u308c\u3084\u80cc\u9aa8\u306e\u7570\u5e38\u3092\u8d77\u3053\u3059\u75c5\u6c17\u306b\u306f\u3001\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b\u3082\u306e\u3084\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/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\u8d64\u3061\u3083\u3093\u304c\u5c0f\u3055\u3081\u3068\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u4e2d\u306e\u907a\u4f1d\u5b66\u7684\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. STAR\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>STAR\u75c7\u5019\u7fa4\u306f\u3001CDK10 \u3068\u7d44\u306b\u306a\u3063\u3066\u306f\u305f\u3089\u304f\u30b5\u30a4\u30af\u30ea\u30f3M\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>X\u67d3\u8272\u4f53\u306b\u95a2\u4fc2\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\u3067\u4e3b\u306b\u5973\u306e\u5b50\u306b\u898b\u3089\u308c\u3001\u8db3\u306e\u6307\u306e\u7652\u5408\u3084\u814e\u81d3\u306e\u7570\u5e38\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002\u30a2\u30eb\u30ab\u30a4\u30b7\u75c7\u5019\u7fa4\u306f\u7537\u5973\u3069\u3061\u3089\u306b\u3082\u8d77\u3053\u308a\u3001\u5f37\u3044\u6210\u9577\u306e\u9045\u308c\u3084\u9996\u306e\u9aa8\u306e\u7570\u5e38\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u3068\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u304c\u5c11\u306a\u304f\u3001\u591a\u304f\u306f\u5b50\u3069\u3082\u306e\u6642\u671f\u306e\u5831\u544a\u306e\u305f\u3081\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u306e\u898b\u901a\u3057\u306f\u307e\u3060\u306f\u3063\u304d\u308a\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u6210\u9577\u3068\u767a\u9054\u306e\u7d4c\u904e\u3001\u80cc\u9aa8\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u652f\u63f4\u3092\u7d9a\u3051\u3066\u3044\u304f\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>Windpassinger C, Piard J, Bonnard C, et al. CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays. <em>Am J Hum Genet<\/em>. 2017;101(3):391-403.<\/li>\n\n\n\n<li>Guen VJ, Gamble C, Flajolet M, et al. CDK10\/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. <em>Proc Natl Acad Sci U S A<\/em>. 2013;110(48):19525-19530.<\/li>\n\n\n\n<li>OMIM #617694 Al Kaissi syndrome. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. <em>Nat Rev Mol Cell Biol<\/em>. 2017;18(9):533-547.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147615","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\/147615","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\/147615\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}