{"id":147846,"date":"2026-11-03T03:47:24","date_gmt":"2026-11-02T18:47:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chudley-mccullough-syndrome-gpsm2\/"},"modified":"2026-11-03T03:47:24","modified_gmt":"2026-11-02T18:47:24","slug":"chudley-mccullough-syndrome-gpsm2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chudley-mccullough-syndrome-gpsm2\/","title":{"rendered":"\u30c1\u30e3\u30c9\u30ea\u30fc\u30fb\u30de\u30ab\u30ed\u30fc\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p 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class=\"wp-block-paragraph\">MRI\u306a\u3069\u306e\u753b\u50cf\u3067\u306f\u8133\u306e\u5909\u5316\u304c\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001<strong>\u77e5\u7684\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u304b\u3001\u8efd\u3044\u9045\u308c\u306b\u3068\u3069\u307e\u308b\u65b9\u304c\u591a\u3044<\/strong>\u3053\u3068\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u4e00\u65b9\u3067\u3001<strong>\u96e3\u8074\u306f\u4e21\u8033\u3068\u3082\u751f\u307e\u308c\u3064\u304d\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069<\/strong>\u3067\u3001\u65e9\u304f\u304b\u3089\u805e\u3053\u3048\u3068\u3053\u3068\u3070\u306e\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u4e16\u754c\u3067\u3082\u5831\u544a\u306e\u5c11\u306a\u3044\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">GPSM2 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class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>GPSM2<\/strong>\uff08LGN \u3068\u3082\u547c\u3070\u308c\u307e\u3059\uff09\u306f\u3001<strong>\u7d30\u80de\u304c\u5206\u88c2\u3059\u308b\u3068\u304d\u306b\u300c\u3069\u3061\u3089\u306e\u5411\u304d\u306b\u5206\u304b\u308c\u308b\u304b\u300d\u3092\u6c7a\u3081\u308b\u76ee\u5370\u306e\u3088\u3046\u306a\u306f\u305f\u3089\u304d\u3092\u3059\u308b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p 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class=\"wp-block-list\">\n<li><strong>\u751f\u307e\u308c\u3064\u304d\u306e\u4e21\u5074\u306e\u91cd\u3044\u96e3\u8074<\/strong>\uff1a\u5185\u8033\u306e\u795e\u7d4c\u306e\u96e3\u8074\uff08\u611f\u97f3\u96e3\u8074\uff09\u3067\u3001<strong>\u3053\u306e\u75c5\u6c17\u306e\u3082\u3063\u3068\u3082\u4e00\u8cab\u3057\u305f\u75c7\u72b6\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u8133\u5ba4\u306e\u62e1\u5927\u30fb\u6c34\u982d\u75c7<\/strong>\uff1a\u5de6\u53f3\u5dee\u304c\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8133\u6881\u306e\u90e8\u5206\u7684\u306a\u6b20\u640d<\/strong>\uff08\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\u304c\u4e00\u90e8\u3067\u304d\u3066\u3044\u306a\u3044\u72b6\u614b\uff09<\/li>\n\n\n\n<li>\u304f\u3082\u819c\u56a2\u80de\u3001\u5927\u304d\u306a\u5927\u69fd\uff08\u5c0f\u8133\u306e\u5f8c\u308d\u306e\u9ac4\u6db2\u306e\u305f\u307e\u308a\uff09<\/li>\n\n\n\n<li>\u8133\u306e\u3057\u308f\u306e\u5f62\u306e\u7570\u5e38\uff08\u591a\u5c0f\u8133\u56de\uff09\u3084\u3001\u795e\u7d4c\u7d30\u80de\u306e\u914d\u7f6e\u306e\u7570\u5e38\uff08\u7570\u6240\u6027\u7070\u767d\u8cea\uff09\u3001\u5c0f\u8133\u306e\u5f62\u306e\u3061\u304c\u3044<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u30fb\u6b69\u304d\u59cb\u3081\u306a\u3069\uff09\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054\u306f\u6b63\u5e38\u304b\u8efd\u3044\u9045\u308c\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\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\"><strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u5ba4\u306e\u62e1\u5927<\/strong>\u3092\u6307\u6458\u3055\u308c\u3001\u80ce\u5150MRI\u3067\u8133\u6881\u306e\u6b20\u640d\u3084\u304f\u3082\u819c\u56a2\u80de\u306a\u3069\u304c\u898b\u3064\u304b\u3063\u3066\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u3042\u3068\u306f\u3001<strong>\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u96e3\u8074<\/strong>\u304c\u898b\u3064\u304b\u308a\u3001\u982d\u306eMRI\u3067\u7279\u5fb4\u7684\u306a\u8133\u306e\u6240\u898b\u304c\u305d\u308d\u3046\u3053\u3068\u3067\u8a3a\u65ad\u306b\u8fd1\u3065\u304d\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\u3001\u30c1\u30e3\u30c9\u30ea\u30fc\u30fb\u30de\u30ab\u30ed\u30fc\u75c7\u5019\u7fa4\u3067\u306f <strong>GPSM2<\/strong> 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class=\"wp-block-list\">\n<li><strong>\u805e\u3053\u3048\u306e\u652f\u63f4<\/strong>\uff1a\u88dc\u8074\u5668\u3084<strong>\u4eba\u5de5\u5185\u8033<\/strong>\u306e\u691c\u8a0e\u3002\u624b\u8a71\u306a\u3069\u306e\u8996\u899a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3082\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3053\u3068\u3070\u306e\u7642\u80b2<\/strong>\uff1a\u8a00\u8a9e\u8074\u899a\u58eb\u306b\u3088\u308b\u65e9\u671f\u304b\u3089\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u6c34\u982d\u75c7\u306e\u6cbb\u7642<\/strong>\uff1a\u8133\u795e\u7d4c\u5916\u79d1\u3067\u3001\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u3084\u5185\u8996\u93e1\u306b\u3088\u308b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u904b\u52d5\u30fb\u3053\u3068\u3070\u30fb\u5b66\u7fd2\u306e\u767a\u9054\u3092\u898b\u5b88\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5c31\u5b66\u3084\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\uff1a\u8074\u899a\u652f\u63f4\u5b66\u6821\u3084\u901a\u5e38\u5b66\u7d1a\u3067\u306e\u914d\u616e\u306a\u3069\u3001\u3054\u5bb6\u65cf\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9078\u3073\u307e\u3059<\/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>GPSM2<\/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>GPSM2<\/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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\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>GPSM2<\/strong>\uff08G-protein signaling modulator 2\u3001\u5225\u540d LGN\uff09\u306f\u3001G\u03b1i \u304a\u3088\u3073 NuMA \u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3001<strong>\u7d30\u80de\u76ae\u8cea\u3067\u7d21\u9318\u4f53\u306e\u5411\u304d\u3092\u898f\u5b9a\u3059\u308b<\/strong>\u3002\u795e\u7d4c\u524d\u99c6\u7d30\u80de\u3067\u306f\u5206\u88c2\u8ef8\u306e\u5236\u5fa1\u3092\u901a\u3058\u3066\u795e\u7d4c\u65b0\u751f\u3068\u76ae\u8cea\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u5185\u8033\u6709\u6bdb\u7d30\u80de\u3067\u306f G\u03b1i \u3068\u3068\u3082\u306b\u9802\u7aef\u9762\u306e\u6975\u6027\u3068<strong>\u4e0d\u52d5\u6bdb\u306e\u4f38\u9577\u30fb\u914d\u5217<\/strong>\u306b\u5fc5\u8981\u3068\u3055\u308c\u308b\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c5\u7684\u5909\u5316\u306e\u591a\u304f\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u306e<strong>\u6a5f\u80fd\u55aa\u5931\u578b<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u753b\u50cf\u6240\u898b\u306f\u7279\u5fb4\u7684\u3067\u3001<strong>\u2460\u3057\u3070\u3057\u3070\u975e\u5bfe\u79f0\u306a\u8133\u5ba4\u62e1\u5927\uff08\u30e2\u30f3\u30ed\u30fc\u5b54\u306e\u9589\u585e\u306b\u3088\u308b\u6c34\u982d\u75c7\uff09\u3001\u2461\u8133\u6881\u90e8\u5206\u6b20\u640d\u3001\u2462\u524d\u982d\u8449\u512a\u4f4d\u306e\u591a\u5c0f\u8133\u56de\u30fb\u7570\u6240\u6027\u7070\u767d\u8cea\u3001\u2463\u5c0f\u8133\u7570\u5f62\u6210\u3001\u2464\u304f\u3082\u819c\u56a2\u80de\u30fb\u5927\u69fd\u62e1\u5927<\/strong>\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u77e5\u3089\u308c\u308b\u3002<strong>\u5148\u5929\u6027\u306e\u9ad8\u5ea6\u611f\u97f3\u96e3\u8074\u306f\u307b\u307c\u5168\u4f8b\u306b\u898b\u3089\u308c\u308b\u4e00\u65b9\u3001\u753b\u50cf\u6240\u898b\u306e\u7a0b\u5ea6\u306b\u6bd4\u3057\u3066\u8a8d\u77e5\u6a5f\u80fd\u304c\u4fdd\u305f\u308c\u3084\u3059\u3044<\/strong>\u70b9\u304c\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3067\u3042\u308b\u3002\u5f53\u521d DFNB82 \u3068\u3057\u3066\u975e\u75c7\u5019\u7fa4\u6027\u96e3\u8074\u3068\u3055\u308c\u305f\u5bb6\u7cfb\u306b\u3064\u3044\u3066\u3082\u3001<strong>\u8133\u753b\u50cf\u3092\u8a55\u4fa1\u3059\u308c\u3070\u672c\u75c7\u5019\u7fa4\u3068\u540c\u4e00\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u542b\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u6027\u30b5\u30a4\u30c8\u30e1\u30ac\u30ed\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u75c7\uff08\u96e3\u8074\u30fb\u8133\u5ba4\u62e1\u5927\u30fb\u76ae\u8cea\u5f62\u6210\u7570\u5e38\u3092\u304d\u305f\u3059\u975e\u907a\u4f1d\u6027\u306e\u539f\u56e0\uff09\u3001L1CAM \u95a2\u9023\u6c34\u982d\u75c7\uff08X\u9023\u9396\uff09\u3001\u305d\u306e\u4ed6\u306e\u8133\u6881\u6b20\u640d\u3084\u76ae\u8cea\u5f62\u6210\u7570\u5e38\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u539f\u56e0\u306b\u3088\u308a\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff09\u3001\u7537\u5150\u306e50%\uff08X\u9023\u9396\uff09\u3001\u307b\u307c0%\uff08\u611f\u67d3\u75c7\uff09\u3068\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>\u96e3\u8074\u3068\u8133\u306e\u5909\u5316\u3092\u3042\u308f\u305b\u3082\u3064\u72b6\u614b\u306b\u306f\u3001\u598a\u5a20\u4e2d\u306e\u611f\u67d3\u75c7\u306a\u3069\u907a\u4f1d\u3067\u306f\u306a\u3044\u539f\u56e0\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u539f\u56e0\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u5ba4\u306e\u62e1\u5927\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong>\u304c\u3001\u96e3\u8074\u306f\u598a\u5a20\u4e2d\u306e\u753b\u50cf\u3067\u306f\u308f\u304b\u308a\u307e\u305b\u3093\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u65e9\u671f\u304b\u3089\u306e\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. \u8133\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u8133\u306e\u753b\u50cf\u306e\u5909\u5316\u304c\u76ee\u7acb\u3064\u308f\u308a\u306b\u3001\u77e5\u7684\u767a\u9054\u306f\u6b63\u5e38\u304b\u8efd\u3044\u9045\u308c\u306b\u3068\u3069\u307e\u308b\u65b9\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u6c34\u982d\u75c7\u306e\u7d4c\u904e\u306b\u3088\u3063\u3066\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306b\u767a\u9054\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306a\u652f\u63f4\u3092\u65e9\u3081\u306b\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u96e3\u8074\u306f\u6cbb\u7642\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u96e3\u8074\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001<strong>\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u306b\u3088\u3063\u3066\u805e\u3053\u3048\u3092\u88dc\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u624b\u8a71\u306a\u3069\u306e\u65b9\u6cd5\u3082\u3042\u308f\u305b\u3066\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u8033\u9f3b\u54bd\u5589\u79d1\u3084\u7642\u80b2\u306e\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\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>Chudley AE, McCullough C, McCullough DW. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. <em>Am J Med Genet<\/em>. 1997;68(3):350-356.<\/li>\n\n\n\n<li>Doherty D, Chudley AE, Coghlan G, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. <em>Am J Hum Genet<\/em>. 2012;90(6):1088-1093.<\/li>\n\n\n\n<li>Walsh T, Shahin H, Elkan-Miller T, et al. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. <em>Am J Hum Genet<\/em>. 2010;87(1):90-94.<\/li>\n\n\n\n<li>OMIM #604213 Chudley-McCullough syndrome; CHMCS. 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-147846","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\/147846","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\/147846\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147846"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}