{"id":136809,"date":"2026-09-08T12:23:54","date_gmt":"2026-09-08T03:23:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136809"},"modified":"2026-09-08T12:23:54","modified_gmt":"2026-09-08T03:23:54","slug":"autosomal-recessive-mental-retardation-15-man1b1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-15-man1b1\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u77e5\u7684\u969c\u5bb315\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>15\u578b\u306f\u3001\u77e5\u7684\u306a\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u3053\u3068\u3070\u3084\u5b66\u7fd2\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u6280\u80fd\u306e\u7fd2\u5f97\u306b\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308b\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>MAN1B1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u306f\u975e\u5e38\u306b\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u578b\u306f\u3001\u3054\u4e21\u89aa\u306b\u8840\u7e01\u95a2\u4fc2\u304c\u3042\u308b\u5bb6\u7cfb\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u306b\u540c\u3058\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059<\/strong>\u3002\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3092\u4f34\u308f\u306a\u3044\u300c\u975e\u75c7\u5019\u6027\u300d\u3068\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3084\u5408\u4f75\u75c7\u3092\u4f34\u3046\u300c\u75c7\u5019\u6027\u300d\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>MAN1B1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u80b2\u3061\u3001\u4e92\u3044\u306b\u3064\u306a\u304c\u308a\u5408\u3046\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>MAN1B1<\/strong> \u306f\u3001\u6b63\u3057\u304f\u6298\u308a\u305f\u305f\u3081\u306a\u304b\u3063\u305f\u305f\u3093\u3071\u304f\u8cea\u3092\u898b\u5206\u3051\u3066<strong>\u5206\u89e3\u3078\u56de\u3059<\/strong>\u305f\u3081\u306e\u3057\u308b\u3057\u3092\u4ed8\u3051\u308b\u9175\u7d20\u3067\u3059\u3002\u7d30\u80de\u306e\u54c1\u8cea\u7ba1\u7406\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c<\/strong>\uff08\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u3053\u3068\u3070\u306e\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li><strong><strong>\u80a5\u6e80\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff08\u984d\u306e\u7a81\u51fa\u3001\u539a\u3044\u5507\uff09\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b<\/strong><\/strong><\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u306e\u7279\u6027\uff08\u591a\u52d5\u3001\u81ea\u9589\u7684\u306a\u50be\u5411\u306a\u3069\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u203b\u9032\u884c\u6027\u306b\u60aa\u5316\u3059\u308b\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u767a\u9054\u306e\u8a55\u4fa1\u3068\u3001\u982d\u90e8MRI\u30fb\u8133\u6ce2\u306a\u3069\u306e\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u307e\u305a\u67d3\u8272\u4f53\u691c\u67fb\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3092\u884c\u3044\u3001\u539f\u56e0\u304c\u7279\u5b9a\u3067\u304d\u306a\u3044\u5834\u5408\u306b<strong>\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\uff09<\/strong>\u3078\u9032\u3080\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<strong>MAN1B1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>15\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li><strong>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2<\/strong>\uff08\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\uff09<\/li>\n\n\n\n<li>\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4\uff08\u500b\u5225\u652f\u63f4\u8a08\u753b\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\uff09<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u306e\u7279\u6027\u306b\u5bfe\u3059\u308b\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u767a\u9054\u306e\u8a55\u4fa1<\/strong>\u3068\u3001\u6210\u9577\u306b\u5fdc\u3058\u305f\u652f\u63f4\u306e\u898b\u76f4\u3057<\/li>\n\n\n\n<li>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n\n\n<\/ul>\n\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\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>MAN1B1<\/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\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\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\n<p>\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>MAN1B1<\/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\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>15\u578b\u306f <strong>MAN1B1<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08autosomal recessive intellectual disability, ARID\/MRT\uff09\u306f\u3001<strong>\u8fd1\u89aa\u5a5a\u7387\u306e\u9ad8\u3044\u96c6\u56e3\u3067\u306e\u9023\u9396\u89e3\u6790\u3068\u30db\u30e2\u63a5\u5408\u6027\u30de\u30c3\u30d4\u30f3\u30b0<\/strong>\u306b\u3088\u3063\u3066\u591a\u6570\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u304d\u305f\u6b74\u53f2\u3092\u6301\u3064\u3002\u73fe\u5728100\u3092\u8d85\u3048\u308b\u907a\u4f1d\u5b50\u5ea7\u304c\u767b\u9332\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><strong>MAN1B1<\/strong>\uff089q34.3\uff09\u306fER \u03b1-1,2-\u30de\u30f3\u30ce\u30b7\u30c0\u30fc\u30bcI\u3067\u3001\u5c0f\u80de\u4f53\u95a2\u9023\u5206\u89e3\uff08ERAD\uff09\u306b\u304a\u3051\u308b\u4e0d\u826f\u86cb\u767d\u306e\u9078\u5225\u3092\u62c5\u3046\u3002<strong>\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\uff08CDG type II\uff09\u306b\u5206\u985e\u3055\u308c\u308b<\/strong>\u304c\u3001\u591a\u81d3\u5668\u75c7\u72b6\u306b\u4e4f\u3057\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u80a5\u6e80\u30fb\u7279\u5fb4\u7684\u9854\u8c8c\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u3002<strong>\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff0b\u80a5\u6e80\uff0b\u7279\u5fb4\u7684\u9854\u8c8c\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u306f\u3001\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u306b\u3088\u308b\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u306e\u7cd6\u9396\u89e3\u6790\u3092\u8003\u616e<\/strong>\u3059\u308b\u3002<\/p>\n\n\n\n<p>ARID\u5168\u822c\u306e\u81e8\u5e8a\u7684\u7559\u610f\u70b9\u3068\u3057\u3066\u3001<strong>(1) \u8840\u65cf\u5a5a\u306e\u5bb6\u7cfb\u6b74\u304c\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3053\u3068\u3001(2) \u975e\u75c7\u5019\u6027ARID\u3067\u306f\u8868\u73fe\u578b\u304b\u3089\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u63a8\u5b9a\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u7db2\u7f85\u7684\u89e3\u6790\uff08\u30a8\u30af\u30bd\u30fc\u30e0\uff0f\u30b2\u30ce\u30e0\u89e3\u6790\uff09\u304c\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308b\u3053\u3068\u3001(3) \u518d\u767a\u7387\u304c1\/4\u3068\u9ad8\u304f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u610f\u7fa9\u304c\u5927\u304d\u3044\u3053\u3068<\/strong>\u304c\u6319\u3052\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306f\u3001\u6cbb\u7642\u53ef\u80fd\u306a\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u9664\u5916\u3001\u5408\u4f75\u75c7\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3001\u305d\u3057\u3066\u6b21\u5b50\u3078\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fb\u7740\u5e8a\u524d\u8a3a\u65ad\u306e\u9078\u629e\u80a2\u306b\u3064\u306a\u304c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9032\u884c\u3057\u3066\u60aa\u304f\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9032\u884c\u6027\u306e\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u767a\u9054\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b<strong>4\u5206\u306e1<\/strong>\u306e\u78ba\u7387\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u7642\u80b2\u306f\u3044\u3064\u304b\u3089\u59cb\u3081\u308b\u3068\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3067\u304d\u308b\u3060\u3051\u65e9\u304f<\/strong>\u3067\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u305d\u306e\u5f8c\u306e\u767a\u9054\u306b\u6709\u52b9\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u539f\u56e0\u304c\u5206\u304b\u308b\u3053\u3068\u3067\u3001\u4f34\u3044\u3084\u3059\u3044\u5408\u4f75\u75c7\u3078\u306e\u5099\u3048\u304c\u3067\u304d\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u8003\u3048\u308b\u3046\u3048\u3067\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002\u307e\u305f\u3001\u6cbb\u7642\u3067\u304d\u308b\u75c5\u6c17\u3068\u306e\u533a\u5225\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8840\u6db2\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u306f\u7cd6\u9396\u306e\u7570\u5e38\u306b\u3088\u308b\u75c5\u6c17\u306e\u305f\u3081\u3001\u8840\u6db2\u4e2d\u306e\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u3068\u3044\u3046\u86cb\u767d\u306e\u7cd6\u9396\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Rafiq MA, Kuss AW, Puettmann L, et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. <em>Am J Hum Genet<\/em>. 2011;89(1):176-182.<\/li>\n\n\n\n<li>Musante L, Ropers HH. Genetics of recessive cognitive disorders. <em>Trends Genet<\/em>. 2014;30(1):32-39.<\/li>\n\n\n\n<li>Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. <em>Nat Rev Genet<\/em>. 2016;17(1):9-18.<\/li>\n\n\n\n<li>Ilyas M, Mir A, Efthymiou S, Houlden H. The genetics of intellectual disability: advancing technology and gene editing. <em>F1000Res<\/em>. 2020;9:F1000 Faculty Rev-22.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136809","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\/136809","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136809\/revisions"}],"predecessor-version":[{"id":137179,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136809\/revisions\/137179"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136809"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}