{"id":147622,"date":"2026-11-03T03:46:52","date_gmt":"2026-11-02T18:46:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alazami-syndrome-larp7\/"},"modified":"2026-11-03T03:46:52","modified_gmt":"2026-11-02T18:46:52","slug":"alazami-syndrome-larp7","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alazami-syndrome-larp7\/","title":{"rendered":"\u30a2\u30e9\u30b6\u30df\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30a2\u30e9\u30b6\u30df\u75c7\u5019\u7fa4\u306f\u3001<strong>\u304a\u306a\u304b\u306e\u4e2d\u306b\u3044\u308b\u3068\u304d\u304b\u3089\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u751f\u307e\u308c\u305f\u3042\u3068\u3082\u8eab\u9577\u304c\u4f38\u3073\u306b\u304f\u3044\u300c\u539f\u767a\u6027\u5c0f\u4eba\u75c7\u300d\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u4f34\u3046\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>LARP7<\/strong>\uff084q25\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\">2012\u5e74\u306b\u3001\u30b5\u30a6\u30b8\u30a2\u30e9\u30d3\u30a2\u306e\u8840\u7e01\u5a5a\u306e\u3054\u5bb6\u7cfb\u306e\u5831\u544a\u3092\u3082\u3068\u306b\u3001\u5831\u544a\u8005\u306e\u540d\u524d\u3092\u3068\u3063\u3066\u540d\u3065\u3051\u3089\u308c\u307e\u3057\u305f\u3002<strong>\u4e16\u754c\u3067\u3082\u5831\u544a\u306f\u6570\u5341\u4f8b\u307b\u3069\u306e\u307e\u308c\u306a\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u4e2d\u6771\u306e\u3054\u5bb6\u7cfb\u304b\u3089\u306e\u5831\u544a\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u3084\u30a2\u30b8\u30a2\u306a\u3069\u3001\u307b\u304b\u306e\u5730\u57df\u304b\u3089\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u547d\u306b\u95a2\u308f\u308b\u5185\u81d3\u306e\u91cd\u3044\u7570\u5e38\u306f\u591a\u304f\u306a\u3044\u3068\u3055\u308c\u3001\u6210\u4eba\u307e\u3067\u6210\u9577\u3055\u308c\u305f\u65b9\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4f4e\u8eab\u9577\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306b\u5bfe\u3057\u3066\u3001\u9577\u3044\u671f\u9593\u306b\u308f\u305f\u308b\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u540d\u524d\u306e\u3088\u304f\u4f3c\u305f\u75c5\u6c17\u306b\u300c\u30a2\u30e9\u30b6\u30df\u30fb\u30e6\u30a2\u30f3\u75c7\u5019\u7fa4\u300d\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u3053\u3061\u3089\u306f ZNF699 \u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u30a2\u30e9\u30b6\u30df\u75c7\u5019\u7fa4\u306f LARP7 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3001<strong>LARP7 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u75c5\u6c17\u306f\u3001\u73fe\u5728\u306e\u3068\u3053\u308d\u3053\u306e\u30a2\u30e9\u30b6\u30df\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u540c\u3058\u907a\u4f1d\u5b50\u3067\u578b\u306e\u7570\u306a\u308b\u75c5\u6c17\u304c\u4e26\u3093\u3067\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u305f\u3081\u3001<strong>\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u306f\u300c\u304a\u306a\u304b\u306e\u4e2d\u304b\u3089\u59cb\u307e\u308b\u5f37\u3044\u4f4e\u8eab\u9577\u300d\u300c\u3053\u3068\u3070\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3068\u6b6f\u306e\u7570\u5e38\u300d\u306e\u7d44\u307f\u5408\u308f\u305b<\/strong>\u3068\u8003\u3048\u308b\u3068\u5206\u304b\u308a\u3084\u3059\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>LARP7<\/strong> \u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u3067<strong>\u300c7SK RNA\u300d\u3068\u3044\u3046\u5c0f\u3055\u306a RNA \u306b\u304f\u3063\u3064\u3044\u3066\u3001\u3053\u308c\u3092\u58ca\u308c\u306a\u3044\u3088\u3046\u306b\u5b88\u308b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">7SK RNA \u306f\u3001\u907a\u4f1d\u5b50\u306e\u60c5\u5831\u3092\u8aad\u307f\u53d6\u308b\u4f5c\u696d\uff08\u8ee2\u5199\uff09\u306e<strong>\u300c\u30d6\u30ec\u30fc\u30ad\u300d\u306e\u5f79\u5272<\/strong>\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002LARP7 \u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068 7SK RNA \u304c\u6e1b\u308a\u3001<strong>\u3069\u306e\u907a\u4f1d\u5b50\u3092\u3069\u308c\u3060\u3051\u8aad\u307f\u53d6\u308b\u304b\u3068\u3044\u3046\u8abf\u7bc0\u304c\u4e71\u308c\u307e\u3059<\/strong>\u3002\u307e\u305f LARP7 \u306f\u3001\u907a\u4f1d\u5b50\u306e\u60c5\u5831\u3092\u7de8\u96c6\u3059\u308b\u4ed5\u7d44\u307f\uff08\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff09\u306b\u304b\u304b\u308f\u308b RNA \u306e\u4ed5\u4e0a\u3052\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3053\u3046\u3057\u305f\u8abf\u7bc0\u306f\u3001<strong>\u304b\u3089\u3060\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u304c\u3082\u3063\u3068\u3082\u76db\u3093\u306a\u80ce\u5150\u671f\u30fb\u4e73\u5e7c\u5150\u671f\u306b\u7279\u306b\u91cd\u8981<\/strong>\u3067\u3042\u308b\u305f\u3081\u3001\u6210\u9577\u3068\u767a\u9054\u306e\u4e21\u65b9\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p 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<strong>\u7537\u306e\u5b50\u306b\u3082\u5973\u306e\u5b50\u306b\u3082\u540c\u3058\u3088\u3046\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u304a\u306a\u304b\u306e\u4e2d\u304b\u3089\u59cb\u307e\u308b\u6210\u9577\u306e\u9045\u308c\u3068\u8457\u3057\u3044\u4f4e\u8eab\u9577<\/strong>\uff1a<strong>\u3053\u306e\u75c5\u6c17\u306e\u3082\u3063\u3068\u3082\u4e2d\u5fc3\u3068\u306a\u308b\u7279\u5fb4\u3067\u3059<\/strong>\u3002\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u5c0f\u3055\u304f\u3001\u305d\u306e\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u304c\u4f38\u3073\u306b\u304f\u3044\u72b6\u614b\u304c\u7d9a\u304d\u307e\u3059<\/li>\n\n\n\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\u7a0b\u5ea6\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u3053\u3068\u304c\u591a\u304f\u3001<strong>\u3068\u304f\u306b\u3053\u3068\u3070\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/strong>\uff1a\u9006\u4e09\u89d2\u5f62\u306e\u9854\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u3084\u9f3b\u304c\u5e45\u5e83\u3044\u3001\u76ee\u304c\u304f\u307c\u3093\u3067\u898b\u3048\u308b\u3001\u53e3\u304c\u5927\u304d\u3044\u306a\u3069<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38<\/strong>\uff1a\u6b6f\u306e\u5f62\u3084\u5927\u304d\u3055\u3001\u6b6f\u4e26\u3073\u3001\u6b6f\u306e\u3059\u304d\u307e\u306e\u7570\u5e38\u304c\u591a\u304f\u306e\u65b9\u3067\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u54fa\u4e73\u3084\u4f53\u91cd\u5897\u52a0\u306e\u4e0d\u826f\uff1a\u4e73\u5150\u671f\u306b\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u306e\u7279\u5fb4\uff1a\u591a\u52d5\u3084\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u305d\u306e\u307b\u304b\u3001\u982d\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u3084\u3001\u80cc\u9aa8\u306e\u5f2f\u66f2\uff08\u5074\u5f2f\uff09\u3001\u624b\u6307\u306e\u5f62\u306e\u9055\u3044\u306a\u3069\u304c\u4e00\u90e8\u306e\u65b9\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<p class=\"wp-block-paragraph\">\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u65b9\u306e\u6570\u304c\u5c11\u306a\u3044\u305f\u3081\u3001<strong>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u4f4e\u8eab\u9577\u304c\u6bd4\u8f03\u7684\u8efd\u3044\u65b9\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067<strong>\u8d64\u3061\u3083\u3093\u306e\u767a\u80b2\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\uff08\u80ce\u5150\u767a\u80b2\u4e0d\u5168\uff09<\/strong>\u3092\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u80ce\u5150\u767a\u80b2\u4e0d\u5168\u306b\u306f\u3055\u307e\u3056\u307e\u306a\u539f\u56e0\u304c\u3042\u308a\u3001<strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093<\/strong>\u3002\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u3001\u4f4e\u8eab\u9577\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u9854\u3064\u304d\u3084\u6b6f\u306e\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u75c7\u72b6\u3060\u3051\u3067\u306f\u3001\u307b\u304b\u306e\u539f\u767a\u6027\u5c0f\u4eba\u75c7\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u75c5\u6c17\u3068\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\u30e9\u30b6\u30df\u75c7\u5019\u7fa4\u3067\u306f <strong>LARP7<\/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\u5b9f\u969b\u306b\u306f\u3001<strong>\u591a\u304f\u306e\u907a\u4f1d\u5b50\u3092\u307e\u3068\u3081\u3066\u8abf\u3079\u308b\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067\u8a3a\u65ad\u306b\u305f\u3069\u308a\u7740\u304f\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5206\u304b\u308b\u3068\u3001\u5408\u4f75\u75c7\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3082\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/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\u304a\u5b50\u3055\u307e\u306e\u6210\u9577\u3068\u767a\u9054\u3092\u652f\u3048\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<strong>\u5c0f\u5150\u79d1\u3092\u4e2d\u5fc3\u306b\u3001\u3055\u307e\u3056\u307e\u306a\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u9577\u304f\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u3068\u6804\u990a\u306e\u7ba1\u7406<\/strong>\uff1a\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3068\u3001\u54fa\u4e73\u3084\u98df\u4e8b\u306e\u5de5\u592b\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u52b9\u679c\u306f\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044<\/li>\n\n\n\n<li><strong>\u7642\u80b2<\/strong>\uff1a\u8a00\u8a9e\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u306a\u3069\u3067\u3001\u3053\u3068\u3070\u3084\u904b\u52d5\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u306e\u652f\u63f4<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u5b66\u3073\u306e\u5834\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u6d3b\u7528<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u3067\u306e\u7ba1\u7406<\/strong>\uff1a\u6b6f\u306e\u5f62\u3084\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3068\u6cbb\u7642<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u3078\u306e\u652f\u63f4\uff1a\u591a\u52d5\u306a\u3069\u306b\u5bfe\u3057\u3066\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u74b0\u5883\u306e\u5de5\u592b\u3084\u5bfe\u5fdc\u3092\u8003\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u798f\u7949\u5236\u5ea6\u306e\u5229\u7528\u3084\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u3054\u76f8\u8ac7<\/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>LARP7<\/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>LARP7<\/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\u30e9\u30b6\u30df\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>LARP7<\/strong>\uff08La-related protein 7\uff09\u306f La \u30e2\u30c1\u30fc\u30d5\u3068 RNA \u8a8d\u8b58\u30e2\u30c1\u30fc\u30d5\u3092\u3082\u3064 RNA \u7d50\u5408\u305f\u3093\u3071\u304f\u8cea\u3067\u3001<strong>7SK snRNA \u306e3\u2032\u672b\u7aef\u306b\u7d50\u5408\u3057\u30015\u2032\u30ad\u30e3\u30c3\u30d7\u3092\u4fee\u98fe\u3059\u308b MEPCE \u3068\u3068\u3082\u306b 7SK snRNP \u3092\u5b89\u5b9a\u5316\u3059\u308b<\/strong>\u30027SK snRNP \u306f HEXIM1 \u3092\u4ecb\u3057\u3066\u8ee2\u5199\u4f38\u9577\u56e0\u5b50 P-TEFb\uff08CDK9\uff0f\u30b5\u30a4\u30af\u30ea\u30f3 T1\uff09\u3092\u4e0d\u6d3b\u6027\u72b6\u614b\u306b\u4fdd\u6301\u3057\u3066\u304a\u308a\u3001<strong>LARP7 \u306e\u6b20\u640d\u3067\u306f 7SK snRNA \u304c\u6e1b\u5c11\u3057\u3001RNA \u30dd\u30ea\u30e1\u30e9\u30fc\u30bcII\u306e\u8ee2\u5199\u4f38\u9577\u5236\u5fa1\u304c\u7834\u7dbb\u3059\u308b<\/strong>\u3002\u52a0\u3048\u3066\u3001LARP7 \u306f\u4f4e\u5206\u5b50\u30ab\u30cf\u30fc\u30eb\u4f53 RNA \u306b\u3088\u308b <strong>U6 snRNA \u306e2\u2032-O-\u30e1\u30c1\u30eb\u5316\u3092\u4fc3\u9032<\/strong>\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u60a3\u8005\u7531\u6765\u7d30\u80de\u3067\u306f U6 \u4fee\u98fe\u306e\u4f4e\u4e0b\u3068\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306e\u5fe0\u5b9f\u5ea6\u4f4e\u4e0b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u6210\u9577\u969c\u5bb3\u3068\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306f\u3001\u3053\u308c\u3089\u8ee2\u5199\u30fb\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5236\u5fa1\u306e\u7570\u5e38\u3092\u80cc\u666f\u3068\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u5927\u534a\u306f<strong>\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u3067\u3001\u4e21\u30a2\u30ec\u30eb\u6027<\/strong>\u3067\u3042\u308b\u3002\u521d\u5831\u306f\u30b5\u30a6\u30b8\u30a2\u30e9\u30d3\u30a2\u306e\u8840\u7e01\u5a5a\u5bb6\u7cfb\u3067\u3042\u308a\u3001\u305d\u308c\u4ee5\u524d\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u5927\u898f\u6a21\u306a\u8840\u7e01\u5bb6\u7cfb\u89e3\u6790\uff08Najmabadi \u3089\u30012011\u5e74\uff09\u3067\u3082\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u3066\u3044\u305f\u3002\u305d\u306e\u5f8c\u3001\u975e\u8840\u7e01\u306e\u4e21\u89aa\u304b\u3089\u751f\u3058\u305f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001<strong>\u4e2d\u6771\u4ee5\u5916\u306e\u96c6\u56e3\u3067\u3082\u9451\u5225\u306b\u6319\u3052\u308b\u3079\u304d\u75be\u60a3<\/strong>\u3067\u3042\u308b\u3002<strong>\u8868\u73fe\u578b\u306f\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168\u304b\u3089\u59cb\u307e\u308b\u539f\u767a\u6027\u5c0f\u4eba\u75c7\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u3068\u304f\u306b\u8868\u51fa\u8a00\u8a9e\u306e\u9045\u308c\uff09\u3001\u9006\u4e09\u89d2\u5f62\u306e\u9854\u8c8c\u30fb\u5e45\u5e83\u3044\u9f3b\u30fb\u6df1\u304f\u304f\u307c\u3093\u3060\u773c\u30fb\u5927\u304d\u306a\u53e3\u3001\u6b6f\u306e\u7570\u5e38\u3092\u4e2d\u6838\u3068\u3057<\/strong>\u3001\u4f4e\u8eab\u9577\u306e\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001Seckel \u75c7\u5019\u7fa4\uff08<em>ATR<\/em> \u306a\u3069\uff09\u3001\u5c0f\u982d\u6027\u9aa8\u7570\u5f62\u6210\u6027\u539f\u767a\u6027\u5c0f\u4eba\u75c7II\u578b\uff08<em>PCNT<\/em>\uff09\u3001Meier-Gorlin \u75c7\u5019\u7fa4\uff08<em>ORC1<\/em> \u306a\u3069\uff09\u3001Silver-Russell \u75c7\u5019\u7fa4\uff08\u591a\u304f\u306f 11p15 \u9818\u57df\u306e\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u7570\u5e38\uff09\u3001\u540d\u79f0\u306e\u985e\u4f3c\u3059\u308b Alazami-Yuan \u75c7\u5019\u7fa4\uff08<em>ZNF699<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u3084\u767a\u751f\u6a5f\u5e8f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff09\u304b\u3089\u3054\u304f\u4f4e\u7387\uff08\u6563\u767a\u6027\u306e\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u7570\u5e38\u306a\u3069\uff09\u307e\u3067\u5927\u304d\u304f\u9055\u3046\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>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002\u4f4e\u8eab\u9577\u3068\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u75c5\u6c17\u306b\u306f\u307b\u304b\u306b\u3082\u591a\u304f\u306e\u7a2e\u985e\u304c\u3042\u308a\u3001\u907a\u4f1d\u306e\u4ed5\u65b9\u3082\u3055\u307e\u3056\u307e\u3067\u3059\u3002<strong>\u518d\u767a\u7387\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\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\u306e\u767a\u80b2\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3092\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u5206\u304b\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067 LARP7 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\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. \u540d\u524d\u306e\u4f3c\u305f\u300c\u30a2\u30e9\u30b6\u30df\u30fb\u30e6\u30a2\u30f3\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3001<strong>\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u30a2\u30e9\u30b6\u30df\u30fb\u30e6\u30a2\u30f3\u75c7\u5019\u7fa4\u306f ZNF699 \u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u3069\u3061\u3089\u306e\u75c5\u6c17\u304b\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u306b\u3064\u3044\u3066\u4e0d\u5b89\u306a\u70b9\u304c\u3042\u308c\u3070\u3001\u9060\u616e\u306a\u304f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u304a\u5c0b\u306d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u6210\u9577\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u65b9\u306e\u6570\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306f\u307e\u3060\u5341\u5206\u306b\u306f\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001\u547d\u306b\u95a2\u308f\u308b\u91cd\u3044\u5185\u81d3\u306e\u7570\u5e38\u306f\u591a\u304f\u306a\u3044\u3068\u3055\u308c\u3001\u6210\u4eba\u307e\u3067\u6210\u9577\u3055\u308c\u305f\u65b9\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u4f4e\u8eab\u9577\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u7d9a\u304f\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u7642\u80b2\u3084\u6559\u80b2\u3001\u798f\u7949\u306e\u652f\u63f4\u3092\u65e9\u3081\u306b\u6574\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/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>Alazami AM, Al-Owain M, Alzahrani F, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. <em>Hum Mutat<\/em>. 2012;33(10):1429-1434.<\/li>\n\n\n\n<li>Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. <em>Nature<\/em>. 2011;478(7367):57-63.<\/li>\n\n\n\n<li>Ling TT, Sorrentino S. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. <em>Am J Med Genet A<\/em>. 2016;170A(1):217-219.<\/li>\n\n\n\n<li>Hollink IH, Alfadhel M, Al Harbi AS, et al. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. <em>J Hum Genet<\/em>. 2016;61(3):229-233.<\/li>\n\n\n\n<li>OMIM #615071 Alazami syndrome. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147622","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\/147622","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\/147622\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147622"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}