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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u611f\u67d3\u75c7\u306e\u4e88\u9632\u30fb\u65e9\u3081\u306e\u5bfe\u5fdc\u3001\u767a\u9054\u306e\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u8074\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e\u3001\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u3053\u3068\u3070\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u65e9\u671f\u6cbb\u7642<\/strong>\uff1a\u4e88\u9632\u63a5\u7a2e\u3092\u542b\u3081\u3001\u304b\u305c\u306a\u3069\u3092\u3053\u3058\u3089\u305b\u306a\u3044\u3088\u3046\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3067\u904b\u52d5\u306e\u767a\u9054\u3068\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8996\u899a\u306e\u652f\u63f4<\/strong>\uff1a\u5b9a\u671f\u7684\u306a\u773c\u79d1\u306e\u8a3a\u5bdf\u3068\u3001\u898b\u3048\u65b9\u306b\u5408\u308f\u305b\u305f\u751f\u6d3b\u30fb\u5b66\u7fd2\u306e\u5de5\u592b<\/li>\n\n\n\n<li><strong>\u547c\u5438\u3068\u6804\u990a\u306e\u7ba1\u7406<\/strong>\uff1a\u98f2\u307f\u8fbc\u307f\u3084\u547c\u5438\u306e\u72b6\u614b\u306b\u5fdc\u3058\u3066\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>S-\u30a2\u30c7\u30ce\u30b7\u30eb\u30e1\u30c1\u30aa\u30cb\u30f3\u306e\u88dc\u5145<\/strong>\uff1a\u4e0d\u8db3\u3059\u308b\u7269\u8cea\u3092\u88dc\u3046\u8003\u3048\u65b9\u3067\u8a66\u307f\u3089\u308c\u3001\u75c7\u72b6\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u305f\u4f8b\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u52b9\u679c\u306f\u307e\u3060\u78ba\u304b\u3081\u3089\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u30fb\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\u3084\u3001\u5fc3\u7406\u7684\u306a\u652f\u3048\u3092\u542b\u3081\u3066\u7d99\u7d9a\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3057\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>PRPS1<\/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>PRPS1<\/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\">X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u3067\u306f\u304a\u5b50\u3055\u307e\u3054\u3068\u306b2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\uff08\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\uff09\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>PRPS1<\/strong>\uff08phosphoribosyl pyrophosphate synthetase 1\uff09\u306f Xq22.3 \u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30dc\u30fc\u30b9-5-\u30ea\u30f3\u9178\u3068 ATP \u304b\u3089 <strong>PRPP \u3092\u5408\u6210\u3059\u308b\u9175\u7d20<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002PRPP \u306f\u30d7\u30ea\u30f3\u30fb\u30d4\u30ea\u30df\u30b8\u30f3\u306e\u65b0\u898f\u5408\u6210\u304a\u3088\u3073\u30b5\u30eb\u30d9\u30fc\u30b8\u7d4c\u8def\u3001\u3055\u3089\u306b NAD(P) \u306e\u751f\u5408\u6210\u306b\u5fc5\u9808\u306e\u57fa\u8cea\u3067\u3042\u308a\u3001<strong>\u6d3b\u6027\u4f4e\u4e0b\u306f\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\uff08ATP\u30fbGTP \u306a\u3069\uff09\u306e\u4f9b\u7d66\u4e0d\u8db3\u3092\u4ecb\u3057\u3066\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u306e\u9ad8\u3044\u795e\u7d4c\u30fb\u5185\u8033\u30fb\u7db2\u819c\u795e\u7d4c\u7bc0\u7d30\u80de\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u6765\u3059<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306f\u9023\u7d9a\u3057\u305f\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u5f62\u6210\u3059\u308b<\/strong>\u2014\u2014\u91cd\u75c7\u7aef\u304b\u3089\u9806\u306b\u3001<strong>\u2460\u30a2\u30fc\u30c4\u75c7\u5019\u7fa4\uff08\u5148\u5929\u6027\u91cd\u5ea6\u611f\u97f3\u96e3\u8074\u3001\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u6613\u611f\u67d3\u6027\u3001\u5e7c\u5150\u671f\u6b7b\u4ea1\u304c\u591a\u3044\uff09\u3001\u2461\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5X\u9023\u93965\u578b\uff08CMTX5\u3001\u96e3\u8074\u30fb\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u30fb\u8996\u795e\u7d4c\u840e\u7e2e\uff09\u3001\u2462X\u9023\u9396\u975e\u75c7\u5019\u7fa4\u6027\u96e3\u8074\uff08DFNX1\uff09<\/strong>\u3068\u306a\u308b\u3002<strong>\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u306e\u7a0b\u5ea6\u304c\u304a\u304a\u3080\u306d\u91cd\u75c7\u5ea6\u3068\u76f8\u95a2\u3059\u308b\u304c\u3001\u540c\u4e00\u5bb6\u7cfb\u5185\u3067\u75c5\u578b\u304c\u91cd\u306a\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5404\u75c5\u578b\u306f\u9023\u7d9a\u4f53\u3068\u307f\u306a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u4e00\u65b9\u3001<strong>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u306f PRPS1 \u6d3b\u6027\u4ea2\u9032\u75c7\uff08\u9ad8\u5c3f\u9178\u8840\u75c7\u30fb\u75db\u98a8\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u3084\u96e3\u8074\uff09\u3092\u8d77\u3053\u3057\u3001\u5c3f\u9178\u5024\u304c\u9451\u5225\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b<\/strong>\u3002\u5973\u6027\u4fdd\u56e0\u8005\u3067\u306fX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u504f\u308a\u306a\u3069\u306b\u3088\u308a\u3001\u9045\u767a\u6027\u96e3\u8074\u306a\u3069\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3001\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u30fc\u75c5\u306a\u3069\u306e\u767d\u8cea\u5909\u6027\u75c7\u3001\u30e2\u30fc\u30a2\u30fb\u30c8\u30e9\u30cd\u30d3\u30e3\u30eb\u30b0\u75c7\u5019\u7fa4\uff08<em>TIMM8A<\/em>\u3001X\u9023\u9396\u306e\u96e3\u8074\u30fb\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u8996\u795e\u7d4c\u840e\u7e2e\uff09\u3001\u30d6\u30e9\u30a6\u30f3\u30fb\u30d3\u30a2\u30ec\u30c3\u30c8\u30fb\u30f4\u30a1\u30f3\u30fb\u30e9\u30fc\u30ec\u75c7\u5019\u7fa4\uff08<em>SLC52A2<\/em>\u30fb<em>SLC52A3<\/em>\u3001\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u8f38\u9001\u4f53\u6b20\u640d\u3067\u6cbb\u7642\u53ef\u80fd\uff09\u3001\u5148\u5929\u6027\u30b5\u30a4\u30c8\u30e1\u30ac\u30ed\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u75c7\u304c\u6319\u304c\u308b\u3002<strong>X\u9023\u9396\u3067\u306f\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u7537\u5150\u306e\u518d\u767a\u7387\u306f50%\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308c\u3070\u4f4e\u3044\u305f\u3081\u3001\u6bcd\u89aa\u306e\u4fdd\u56e0\u8005\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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u306f\u304a\u5b50\u3055\u307e\u3054\u3068\u306b2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u304a\u5b50\u3055\u307e\u306b\u65b0\u305f\u306b\u8d77\u304d\u305f\u5909\u5316\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002<strong>\u898b\u901a\u3057\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u591a\u304f\u306f\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u5973\u6027\u306e\u30ad\u30e3\u30ea\u30a2\u3067\u3082\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u96e3\u8074\u304c\u51fa\u305f\u308a\u3001\u307e\u308c\u306b\u8996\u529b\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u307f\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308c\u3070\u3001\u8033\u9f3b\u79d1\u3084\u773c\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u8efd\u3044\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u6b8b\u3063\u3066\u3044\u308b\u9175\u7d20\u306e\u306f\u305f\u3089\u304d\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u30a2\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u3082\u3063\u3068\u3082\u91cd\u3044\u578b\u3067\u3001\u8efd\u3044\u578b\u3067\u306f\u96e3\u8074\u3068\u624b\u8db3\u306e\u795e\u7d4c\u306e\u969c\u5bb3\u304c\u4e2d\u5fc3\u306b\u306a\u3063\u305f\u308a\u3001\u96e3\u8074\u3060\u3051\u304c\u73fe\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u3069\u306e\u578b\u306b\u3042\u305f\u308b\u304b\u306f\u3001\u75c7\u72b6\u3068\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u3042\u308f\u305b\u3066\u5224\u65ad\u3057\u307e\u3059\u3002<\/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>\u3053\u306e\u75c5\u6c17\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7570\u5e38\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u304c\u3044\u3066\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\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. \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>Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. <em>Ann Neurol<\/em>. 1993;33(5):535-539.<\/li>\n\n\n\n<li>de Brouwer AP, Williams KL, Duley JA, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1. <em>Am J Hum Genet<\/em>. 2007;81(3):507-518.<\/li>\n\n\n\n<li>Kim HJ, Sohn KM, Shy ME, et al. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5). <em>Am J Hum Genet<\/em>. 2007;81(3):552-558.<\/li>\n\n\n\n<li>Synofzik M, M\u00fcller vom Hagen J, Haack TB, et al. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. <em>Orphanet J Rare Dis<\/em>. 2014;9:24.<\/li>\n\n\n\n<li>OMIM #301835 Arts 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-147657","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\/147657","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\/147657\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147657"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}