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class=\"wp-block-list\">\n<li><strong>\u982d\u76ae\u6b20\u640d\u306e\u5275\u90e8\u306e\u7ba1\u7406<\/strong>\uff1a\u5c0f\u3055\u306a\u6b20\u640d\u306f\u3001\u4e7e\u71e5\u3084\u611f\u67d3\u3092\u9632\u3050\u51e6\u7f6e\u3067\u81ea\u7136\u306b\u76ae\u819a\u304c\u5f35\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u982d\u76ae\u30fb\u982d\u84cb\u9aa8\u6b20\u640d\u3078\u306e\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u51fa\u8840\u3084\u611f\u67d3\u3092\u9632\u3050\u305f\u3081\u3001\u76ae\u819a\u306e\u79fb\u690d\u3084\u982d\u84cb\u9aa8\u306e\u518d\u5efa\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u5f62\u306e\u9055\u3044\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u6a5f\u80fd\u306b\u652f\u969c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6574\u5f62\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u3067\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u5fc3\u81d3\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u79d1\u3067\u7d4c\u904e\u3092\u307f\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5fc3\u7406\u7684\u652f\u63f4<\/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>EOGT<\/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>EOGT<\/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>EOGT<\/strong>\u306f<strong>\u5c0f\u80de\u4f53\u5185\u8154\u306b\u5c40\u5728\u3059\u308b\u3001\u4e0a\u76ae\u6210\u9577\u56e0\u5b50\u69d8\u30c9\u30e1\u30a4\u30f3\u7279\u7570\u7684\u306a O-\u7d50\u5408\u578b N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u8ee2\u79fb\u9175\u7d20<\/strong>\u3067\u3001\u7279\u5b9a\u306e\u5171\u901a\u914d\u5217\u3092\u3082\u3064\u4e0a\u76ae\u6210\u9577\u56e0\u5b50\u69d8\u30ea\u30d4\u30fc\u30c8\u306e\u30bb\u30ea\u30f3\u30fb\u30b9\u30ec\u30aa\u30cb\u30f3\u6b8b\u57fa\u306b\u7cd6\u3092\u4ed8\u52a0\u3059\u308b\u3002\u4e3b\u8981\u306a\u57fa\u8cea\u306f <strong>NOTCH1<\/strong> \u306a\u3069\u306e Notch \u53d7\u5bb9\u4f53\u306e\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u3067\u3042\u308a\u3001\u3053\u306e\u4fee\u98fe\u306f<strong>\u30ea\u30ac\u30f3\u30c9 DLL4 \u3068\u306e\u7d50\u5408\u3092\u9ad8\u3081\u3001\u8840\u7ba1\u65b0\u751f\u306b\u304a\u3051\u308b Notch \u30b7\u30b0\u30ca\u30eb\u3092\u652f\u3048\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u30a2\u30c0\u30e0\u30b9\u30fb\u30aa\u30ea\u30d0\u30fc\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u3001Notch \u7d4c\u8def\uff08NOTCH1\u3001DLL4\u3001RBPJ\u3001EOGT\uff09\u3068\u3001\u7d30\u80de\u9aa8\u683c\u3092\u5236\u5fa1\u3059\u308b\u4f4e\u5206\u5b50\u91cfG\u305f\u3093\u3071\u304f\u8cea\u306e\u7d4c\u8def\uff08ARHGAP31\u3001DOCK6\uff09\u306e2\u7fa4\u306b\u6574\u7406\u3055\u308c\u308b\u3002<\/strong>EOGT \u5909\u7570\u306f2013\u5e74\u306b\u30a2\u30e9\u30d6\u7cfb\u306e\u8fd1\u89aa\u5a5a\u5bb6\u7cfb\u3067\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3001\u4ee5\u5f8c\u3001<strong>\u6a5f\u80fd\u55aa\u5931\u578b\u306e\u30db\u30e2\u63a5\u5408\u6027\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570<\/strong>\u304c\u8907\u6570\u306e\u6c11\u65cf\u3067\u898b\u51fa\u3055\u308c\u3066\u3044\u308b\u3002<strong>4\u578b\u306e\u8868\u73fe\u578b\u306f\u982d\u76ae\u306e\u5148\u5929\u6027\u76ae\u819a\u6b20\u640d\u3068\u56db\u80a2\u672b\u7aef\u6a2a\u8ef8\u6b20\u640d\u304c\u4e3b\u4f53\u3067\u3001\u540c\u3058\u6f5c\u6027\u578b\u306e DOCK6 \u95a2\u9023\uff082\u578b\uff09\u306b\u9ad8\u983b\u5ea6\u306a\u8133\u5ba4\u5468\u56f2\u77f3\u7070\u5316\u30fb\u591a\u5c0f\u8133\u56de\u30fb\u3066\u3093\u304b\u3093\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u773c\u7570\u5e38\u306f\u6bd4\u8f03\u7684\u307e\u308c<\/strong>\u3068\u3055\u308c\u308b\u3002\u305f\u3060\u3057\u5831\u544a\u4f8b\u6570\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u8868\u73fe\u578b\u306e\u5e45\u306b\u3064\u3044\u3066\u306f\u4eca\u5f8c\u306e\u84c4\u7a4d\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30a2\u30c0\u30e0\u30b9\u30fb\u30aa\u30ea\u30d0\u30fc\u75c7\u5019\u7fa4\u306e\u307b\u304b\u306e\u578b\uff081\u578b <em>ARHGAP31<\/em>\u30013\u578b <em>RBPJ<\/em>\u30015\u578b <em>NOTCH1<\/em>\u30016\u578b <em>DLL4<\/em>\u3001\u3044\u305a\u308c\u3082\u9855\u6027\uff09\u30012\u578b\uff08<em>DOCK6<\/em>\u3001\u6f5c\u6027\uff09\u3001\u982d\u76ae\u6b20\u640d\u3092\u5358\u72ec\u3067\u793a\u3059\u975e\u75c7\u5019\u6027\u306e\u5148\u5929\u6027\u76ae\u819a\u6b20\u640d\u75c7\u3001\u7f8a\u819c\u7d22\u75c7\u5019\u7fa4\uff08\u591a\u304f\u306f\u975e\u907a\u4f1d\u6027\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u9855\u6027\u306e\u578b\u3067\u306f\u6d78\u900f\u7387\u304c\u4e0d\u5b8c\u5168\u3067\u89aa\u304c\u8efd\u75c7\u306a\u3044\u3057\u7121\u75c7\u72b6\u306e\u3053\u3068\u304c\u3042\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c50%\uff08\u9855\u6027\uff09\u300125%\uff08\u6f5c\u6027\uff09\u3001\u307b\u307c0%\uff08\u7f8a\u819c\u7d22\u306a\u3069\u306e\u975e\u907a\u4f1d\u6027\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\u578b\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>\u30a2\u30c0\u30e0\u30b9\u30fb\u30aa\u30ea\u30d0\u30fc\u75c7\u5019\u7fa4\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u578b\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u518d\u767a\u7387\u304c2\u5206\u306e1\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u578b\u306b\u3088\u3063\u3066\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>\u624b\u8db3\u306e\u5927\u304d\u306a\u5f62\u306e\u9055\u3044\u306f\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u982d\u76ae\u306e\u6b20\u640d\u3084\u6307\u5148\u306e\u5c0f\u3055\u306a\u9055\u3044\u306f\u3001\u598a\u5a20\u4e2d\u306b\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306a\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. 1\u578b\u30842\u578b\u306a\u3069\u3001\u307b\u304b\u306e\u578b\u3068\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u578b\u306e\u9055\u3044\u306f<strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3068\u907a\u4f1d\u5f62\u5f0f\u306e\u9055\u3044<\/strong>\u3067\u3059\u30024\u578b\u306f EOGT \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u6f5c\u6027\u907a\u4f1d\u306e\u578b\u3067\u3001<strong>\u982d\u76ae\u3068\u624b\u8db3\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u591a\u3044<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u6f5c\u6027\u907a\u4f1d\u306e2\u578b\u3067\u306f\u3001\u8133\u3084\u76ee\u306e\u7570\u5e38\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u982d\u76ae\u306e\u6b20\u640d\u306f\u6cbb\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5c0f\u3055\u306a\u6b20\u640d\u3067\u3042\u308c\u3070\u3001\u9069\u5207\u306a\u51e6\u7f6e\u3067\u6570\u9031\u9593\u304b\u3089\u6570\u304b\u6708\u306e\u3046\u3061\u306b\u76ae\u819a\u304c\u5f35\u308a\u3001\u50b7\u3042\u3068\u304c\u6b8b\u308b\u7a0b\u5ea6\u3067\u843d\u3061\u7740\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/strong>\u50b7\u3042\u3068\u306e\u90e8\u5206\u306b\u306f\u9aea\u304c\u751f\u3048\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3084\u9aa8\u306e\u6b20\u640d\u3092\u4f34\u3046\u5834\u5408\u306f\u3001\u51fa\u8840\u3084\u611f\u67d3\u3092\u9632\u3050\u305f\u3081\u306b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\u3067\u306e\u7ba1\u7406\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>Lehman A, Wuyts W, Patel MS. Adams-Oliver Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #615297 Adams-Oliver syndrome 4; AOS4. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Shaheen R, Aglan M, Keppler-Noreuil K, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. <em>Am J Hum Genet<\/em>. 2013;92(4):598-604.<\/li>\n\n\n\n<li>Cohen I, Silberstein E, Perez Y, et al. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. <em>Eur J Hum Genet<\/em>. 2014;22(3):374-378.<\/li>\n\n\n\n<li>Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. <em>Am J Med Genet A<\/em>. 2009;149A(8):1860-1881.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147608","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\/147608","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\/147608\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147608"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}