{"id":147671,"date":"2026-11-03T03:46:59","date_gmt":"2026-11-02T18:46:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/baller-gerold-syndrome-recql4\/"},"modified":"2026-11-03T03:46:59","modified_gmt":"2026-11-02T18:46:59","slug":"baller-gerold-syndrome-recql4","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/baller-gerold-syndrome-recql4\/","title":{"rendered":"\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\u306f\u3001<strong>\u982d\u306e\u9aa8\u306e\u3064\u306a\u304e\u76ee\u304c\u65e9\u304f\u9589\u3058\u3066\u3057\u307e\u3046\u300c\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u300d\u3068\u3001\u524d\u8155\u306e\u89aa\u6307\u5074\u306e\u9aa8\uff08\u6a48\u9aa8\uff09\u3084\u89aa\u6307\u304c\u5341\u5206\u306b\u80b2\u305f\u306a\u3044\u300c\u6a48\u5074\u5217\u5f62\u6210\u4e0d\u5168\u300d\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u8d77\u3053\u308b\u3001\u307e\u308c\u306a\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>RECQL4<\/strong>\uff088q24.3\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\">\u3053\u306e\u307b\u304b\u3001<strong>\u8eab\u9577\u306e\u4f38\u3073\u306e\u9045\u308c<\/strong>\u3084\u3001\u751f\u5f8c\u3057\u3070\u3089\u304f\u3057\u3066\u304b\u3089\u73fe\u308c\u308b<strong>\u76ae\u819a\u306e\u8272\u3080\u3089\uff08\u591a\u5f62\u76ae\u819a\u840e\u7e2e\uff09<\/strong>\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u77e5\u7684\u767a\u9054\u306f\u591a\u304f\u306e\u5834\u5408\u3067\u4fdd\u305f\u308c\u307e\u3059\u3002<\/strong>\u982d\u306e\u5f62\u3084\u8155\u30fb\u624b\u306e\u5f62\u306e\u9055\u3044\u304b\u3089\u3001<strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u751f\u307e\u308c\u305f\u76f4\u5f8c\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">RECQL4 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u75c7\u72b6\u304c\u4e00\u90e8\u91cd\u306a\u308a\u5408\u3046\u8907\u6570\u306e\u75c5\u6c17\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<strong>\u540c\u3058\u907a\u4f1d\u5b50\u306b\u3088\u308b\u75c5\u6c17\u306b\u306f\u30ed\u30fc\u30c8\u30e0\u30f3\u30c9\u30fb\u30c8\u30e0\u30bd\u30f3\u75c7\u5019\u7fa42\u578b\u3068 RAPADILINO \u75c7\u5019\u7fa4\u304c\u3042\u308a\u3001\u305d\u306e\u306a\u304b\u3067\u300c\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u300d\u3068\u300c\u6a48\u5074\u5217\u5f62\u6210\u4e0d\u5168\u300d\u304c\u305d\u308d\u3046\u3053\u3068\u3092\u7279\u5fb4\u3068\u3059\u308b\u306e\u304c\u3001\u3053\u306e\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>RECQL4<\/strong> \u306f\u3001<strong>DNA \u306e\u4e8c\u91cd\u3089\u305b\u3093\u3092\u307b\u3069\u304f\u9175\u7d20\uff08DNA 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class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7<\/strong>\uff1a\u3068\u304f\u306b\u984d\u306e\u5de6\u53f3\u306e\u7e2b\u5408\uff08\u51a0\u72b6\u7e2b\u5408\uff09\u304c\u9589\u3058\u3084\u3059\u304f\u3001<strong>\u984d\u304c\u5f35\u308a\u51fa\u3057\u3001\u982d\u304c\u524d\u5f8c\u306b\u77ed\u304f\u9ad8\u3044\u5f62<\/strong>\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6a48\u5074\u5217\u5f62\u6210\u4e0d\u5168<\/strong>\uff1a<strong>\u6a48\u9aa8\u304c\u77ed\u3044\u3001\u307e\u305f\u306f\u6b20\u3051\u3066\u3044\u308b\u305f\u3081\u306b\u524d\u8155\u304c\u77ed\u304f\u3001\u624b\u9996\u304c\u89aa\u6307\u5074\u3078\u66f2\u304c\u308a\u307e\u3059<\/strong>\u3002\u89aa\u6307\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u7121\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5de6\u53f3\u3067\u7a0b\u5ea6\u304c\u9055\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u9045\u308c<\/strong>\uff1a\u8eab\u9577\u304c\u4f4e\u3081\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u307f\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u591a\u5f62\u76ae\u819a\u840e\u7e2e<\/strong>\uff1a\u751f\u5f8c\u6570\u304b\u6708\u304b\u3089\u6570\u5e74\u306e\u3046\u3061\u306b\u3001\u624b\u8db3\u3084\u9854\u306e\u76ae\u819a\u306b<strong>\u8d64\u307f\u30fb\u8272\u306e\u6fc3\u3044\u90e8\u5206\u3068\u8584\u3044\u90e8\u5206\u306e\u307e\u3060\u3089\u6a21\u69d8\u30fb\u76ae\u819a\u304c\u8584\u304f\u306a\u308b\u5909\u5316<\/strong>\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u3072\u3056\u306e\u304a\u76bf\u306e\u9aa8\uff08\u819d\u84cb\u9aa8\uff09\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u7121\u3044<\/li>\n\n\n\n<li>\u809b\u9580\u306e\u4f4d\u7f6e\u306e\u7570\u5e38\u3084\u9396\u809b\u3001\u814e\u81d3\u306e\u5f62\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054\u306f\u591a\u304f\u306e\u5834\u5408\u3067\u4fdd\u305f\u308c\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u307e\u308c\u306b\u3001<strong>\u9aa8\u8089\u816b\u3084\u30ea\u30f3\u30d1\u816b<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\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<\/strong>\u3067\u3001\u524d\u8155\u306e\u9aa8\u304c\u77ed\u3044\u30fb\u7121\u3044\u3001\u89aa\u6307\u304c\u898b\u3048\u306a\u3044\u3001\u624b\u9996\u306e\u66f2\u304c\u308a\u3001\u982d\u306e\u5f62\u306e\u7570\u5e38\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u3042\u3068\u306f\u3001<strong>X\u7dda\u691c\u67fb\u3067\u8155\u3084\u624b\u306e\u9aa8\u3092\u3001\u982d\u90e8CT\u691c\u67fb\u3067\u9589\u3058\u3066\u3044\u308b\u7e2b\u5408\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u8155\u3084\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\u306f\u3001\u307b\u304b\u306e\u591a\u304f\u306e\u75c5\u6c17\u3067\u3082\u307f\u3089\u308c\u307e\u3059\u3002\u3068\u304f\u306b<strong>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840\uff08\u9aa8\u9ac4\u306e\u306f\u305f\u3089\u304d\u304c\u843d\u3061\u308b\u75c5\u6c17\uff09\u3068\u306e\u533a\u5225\u304c\u5927\u5207<\/strong>\u3067\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8840\u6db2\u306e\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u307e\u305f\u3001<strong>\u598a\u5a20\u4e2d\u306e\u304a\u6bcd\u3055\u307e\u304c\u7279\u5b9a\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\uff08\u30d0\u30eb\u30d7\u30ed\u9178\uff09\u3092\u670d\u7528\u3057\u3066\u3044\u305f\u5834\u5408\u306b\u3082\u3001\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong>\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\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\u3067\u306f <strong>RECQL4<\/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<strong>\u4f3c\u305f\u75c5\u6c17\u3068\u306f\u907a\u4f1d\u5f62\u5f0f\u3082\u5c06\u6765\u306e\u6ce8\u610f\u70b9\u3082\u9055\u3046\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/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>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u7d99\u7d9a\u7684\u306a\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<strong>\u8133\u795e\u7d4c\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u76ae\u819a\u79d1\u30fb\u5c0f\u5150\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u8a3a\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u5f62\u6210\u624b\u8853<\/strong>\uff1a\u4e3b\u306b\u4e73\u5150\u671f\u306b\u3001\u9589\u3058\u305f\u7e2b\u5408\u3092\u958b\u3044\u3066\u982d\u306e\u5f62\u3092\u6574\u3048\u3001\u8133\u304c\u80b2\u3064\u7a7a\u9593\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u982d\u306e\u4e2d\u306e\u5727\u304c\u9ad8\u304f\u306a\u3044\u304b\u3001\u76ee\u3078\u306e\u5f71\u97ff\u304c\u306a\u3044\u304b\u3082\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8155\u30fb\u624b\u306e\u6cbb\u7642<\/strong>\uff1a\u624b\u9996\u306e\u66f2\u304c\u308a\u306e\u77ef\u6b63\u3084\u3001\u4eba\u3055\u3057\u6307\u3092\u89aa\u6307\u3068\u3057\u3066\u4f7f\u3048\u308b\u3088\u3046\u306b\u3059\u308b\u624b\u8853\uff08\u6bcd\u6307\u5316\u8853\uff09\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\u3067\u65e5\u5e38\u306e\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u30b1\u30a2<\/strong>\uff1a\u76ae\u819a\u306e\u5909\u5316\u304c\u3042\u308b\u5834\u5408\u306f\u3001<strong>\u65e5\u713c\u3051\u6b62\u3081\u306e\u4f7f\u7528\u306a\u3069\u7d2b\u5916\u7dda\u3092\u907f\u3051\u308b\u5de5\u592b<\/strong>\u3092\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u3068\u6804\u990a\u306e\u898b\u5b88\u308a<\/strong><\/li>\n\n\n\n<li><strong>\u816b\u760d\u3078\u306e\u6ce8\u610f<\/strong>\uff1a\u9aa8\u306e\u75db\u307f\u3084\u816b\u308c\u3001\u30ea\u30f3\u30d1\u7bc0\u306e\u816b\u308c\u304c\u7d9a\u304f\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u5b9a\u671f\u7684\u306b\u8a3a\u5bdf\u3092\u53d7\u3051\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>RECQL4<\/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<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>RECQL4<\/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\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\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>RECQL4<\/strong> \u306f RecQ \u30d8\u30ea\u30ab\u30fc\u30bc\u30d5\u30a1\u30df\u30ea\u30fc\uff08WRN\u3001BLM \u3068\u540c\u3058\u7cfb\u7d71\uff09\u306b\u5c5e\u3057\u3001<strong>N \u672b\u7aef\u5074\u306e\u9175\u6bcd Sld2 \u985e\u4f3c\u9818\u57df\u304c DNA \u8907\u88fd\u958b\u59cb\u306b\u5fc5\u9808<\/strong>\u3067\u3042\u308a\u3001C \u672b\u7aef\u5074\u306e\u30d8\u30ea\u30ab\u30fc\u30bc\u9818\u57df\u306f DNA \u4fee\u5fa9\u3084\u30b2\u30ce\u30e0\u5b89\u5b9a\u6027\u306e\u7dad\u6301\u306b\u304b\u304b\u308f\u308b\u3002\u4e21\u30a2\u30ec\u30eb\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u3001\u5897\u6b96\u306e\u76db\u3093\u306a\u9593\u8449\u7cfb\u7d44\u7e54\u306e\u767a\u751f\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u907a\u4f1d\u5b50\u306f3\u3064\u306e\u30a2\u30ec\u30eb\u6027\u75be\u60a3\u3092\u8d77\u3053\u3059<\/strong>\u2014\u2014<strong>\u2460\u30ed\u30fc\u30c8\u30e0\u30f3\u30c9\u30fb\u30c8\u30e0\u30bd\u30f3\u75c7\u5019\u7fa42\u578b\uff08\u4e73\u5150\u671f\u767a\u75c7\u306e\u591a\u5f62\u76ae\u819a\u840e\u7e2e\u3001\u9aa8\u683c\u7570\u5e38\u3001\u9aa8\u8089\u816b\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\uff09\u3001\u2461RAPADILINO \u75c7\u5019\u7fa4\uff08\u6a48\u5074\u5217\u5f62\u6210\u4e0d\u5168\u30fb\u819d\u84cb\u9aa8\u4f4e\u5f62\u6210\u30fb\u53e3\u84cb\u88c2\u30fb\u7d30\u3044\u9f3b\u3092\u7279\u5fb4\u3068\u3057\u3001\u591a\u5f62\u76ae\u819a\u840e\u7e2e\u3092\u6b20\u304f\u3002\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306b\u591a\u3044\uff09\u3001\u2462\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\uff08\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff0b\u6a48\u5074\u5217\u5f62\u6210\u4e0d\u5168\uff09<\/strong>\u3002<strong>\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3067\u7d4c\u904e\u4e2d\u306b\u591a\u5f62\u76ae\u819a\u840e\u7e2e\u304c\u51fa\u73fe\u3059\u308b\u4f8b\u304c\u3042\u308a\u30013\u75be\u60a3\u306f\u9023\u7d9a\u3057\u305f\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u6349\u3048\u3089\u308c\u3066\u3044\u308b<\/strong>\u3002\u30ed\u30fc\u30c8\u30e0\u30f3\u30c9\u30fb\u30c8\u30e0\u30bd\u30f3\u75c7\u5019\u7fa4\u3067\u306f\u9aa8\u8089\u816b\u306e\u767a\u75c7\u304c RECQL4 \u306e\u77ed\u7e2e\u578b\u5909\u7570\u3068\u95a2\u9023\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u672c\u75c7\u3067\u3082\u816b\u760d\u3078\u306e\u9577\u671f\u7684\u306a\u6ce8\u610f\u304c\u52e7\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840\uff08\u67d3\u8272\u4f53\u8106\u5f31\u6027\u8a66\u9a13\u3067\u9451\u5225\uff09\u3001\u30bb\u30c8\u30ec\u30fb\u30d2\u30e7\u30c3\u30c4\u30a7\u30f3\u75c7\u5019\u7fa4\uff08<em>TWIST1<\/em>\u3001\u9855\u6027\uff09\u3001\u80ce\u5150\u30d0\u30eb\u30d7\u30ed\u9178\u75c7\u5019\u7fa4\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08<em>ESCO2<\/em>\uff09\u3001\u30db\u30eb\u30c8\u30fb\u30aa\u30fc\u30e9\u30e0\u75c7\u5019\u7fa4\uff08<em>TBX5<\/em>\u3001\u9855\u6027\uff09\u3001TAR \u75c7\u5019\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u304b\u3064\u3066\u81e8\u5e8a\u7684\u306b\u672c\u75c7\u3068\u3055\u308c\u305f\u4f8b\u306e\u4e00\u90e8\u306f\u3053\u308c\u3089\u306e\u75be\u60a3\u3067\u3042\u3063\u305f\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u304a\u308a\u3001\u907a\u4f1d\u5f62\u5f0f\u30fb\u518d\u767a\u7387\u30fb\u816b\u760d\u3084\u9aa8\u9ac4\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u7ba1\u7406\u65b9\u91dd\u3068\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>\u8155\u3084\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\u3001\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306f\u3001\u9855\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3084\u598a\u5a20\u4e2d\u306e\u304a\u85ac\u306e\u5f71\u97ff\u3067\u3082\u8d77\u3053\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\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>\u524d\u8155\u306e\u9aa8\u3084\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\u306f\u3001\u598a\u5a20\u4e2d\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u982d\u306e\u9aa8\u306e\u3064\u306a\u304e\u76ee\u306e\u7570\u5e38\u306f\u598a\u5a20\u4e2d\u306b\u306f\u308f\u304b\u308a\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\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. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u307b\u304b\u306e\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>RECQL4 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u30ed\u30fc\u30c8\u30e0\u30f3\u30c9\u30fb\u30c8\u30e0\u30bd\u30f3\u75c7\u5019\u7fa42\u578b\u3084 RAPADILINO \u75c7\u5019\u7fa4\u3082\u8d77\u3053\u3057\u307e\u3059\u3002<\/strong>\u30d0\u30e9\u30fc\u30fb\u30b8\u30a7\u30ed\u30eb\u30c9\u75c7\u5019\u7fa4\u306f\u3001\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3068\u8155\u30fb\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\u304c\u305d\u308d\u3046\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u305f\u3060\u3057\u75c7\u72b6\u306f\u91cd\u306a\u308a\u5408\u3063\u3066\u304a\u308a\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u76ae\u819a\u306e\u5909\u5316\u306a\u3069\u5225\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5c06\u6765\u3001\u304c\u3093\u306b\u306a\u308a\u3084\u3059\u3044\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u307e\u308c\u306b\u9aa8\u8089\u816b\u3084\u30ea\u30f3\u30d1\u816b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u540c\u3058\u907a\u4f1d\u5b50\u306b\u3088\u308b\u30ed\u30fc\u30c8\u30e0\u30f3\u30c9\u30fb\u30c8\u30e0\u30bd\u30f3\u75c7\u5019\u7fa42\u578b\u3067\u306f\u9aa8\u8089\u816b\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001<strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3092\u7d9a\u3051\u3001\u9aa8\u306e\u75db\u307f\u3084\u816b\u308c\u304c\u7d9a\u304f\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059<\/strong>\u3002\u3069\u306e\u7a0b\u5ea6\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u306f\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\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>Van Maldergem L. Baller-Gerold Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #218600 Baller-Gerold Syndrome; BGS. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Van Maldergem L, Siitonen HA, Jalkh N, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. <em>J Med Genet<\/em>. 2006;43(2):148-152.<\/li>\n\n\n\n<li>Kitao S, Shimamoto A, Goto M, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. <em>Nat Genet<\/em>. 1999;22(1):82-84.<\/li>\n\n\n\n<li>Siitonen HA, Kopra O, K\u00e4\u00e4ri\u00e4inen H, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. <em>Hum Mol Genet<\/em>. 2003;12(21):2837-2844.<\/li>\n\n\n\n<li>Wang LL, Gannavarapu A, Kozinetz CA, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. <em>J Natl Cancer Inst<\/em>. 2003;95(9):669-674.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147671","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\/147671","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\/147671\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147671"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}