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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>\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>SERPINH1<\/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<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<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<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<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI\uff09\u306f<strong>I\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u91cf\u7684\u30fb\u8cea\u7684\u7570\u5e38\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u7ffb\u8a33\u5f8c\u4fee\u98fe\u30fb\u5206\u6ccc\u30fb\u9aa8\u57fa\u8cea\u77f3\u7070\u5316\u306e\u7570\u5e38<\/strong>\u306b\u3088\u308b\u9aa8\u8106\u5f31\u6027\u75be\u60a3\u7fa4\u3067\u3042\u308b\u3002\u53e4\u5178\u7684\u306aSillence\u5206\u985e\uff08I\u301cIV\u578b\uff09\u306f\u81e8\u5e8a\u7684\u91cd\u75c7\u5ea6\u306b\u57fa\u3065\u304f\u304c\u3001\u73fe\u5728\u306f<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u304f\u5206\u985e\u304c20\u578b\u4ee5\u4e0a<\/strong>\u306b\u62e1\u5f35\u3055\u308c\u3066\u3044\u308b\u3002<strong>\u7d0485\u301c90%\u306f<em>COL1A1<\/em>\uff0f<em>COL1A2<\/em>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u9855\u6027\u578b<\/strong>\u3067\u3001\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u91cf\u7684\u7570\u5e38\uff09\u306f\u8efd\u75c7\u306eI\u578b\u3092\u3001\u30b0\u30ea\u30b7\u30f3\u7f6e\u63db\uff08\u8cea\u7684\u7570\u5e38\uff09\u306fII\u301cIV\u578b\u3092\u751f\u3058\u308b\u3002<\/p>\n\n\n<p><strong>SERPINH1<\/strong>\uff08HSP47\u300111q13.5\uff09\u306f\u5c0f\u80de\u4f53\u306b\u5c40\u5728\u3059\u308b<strong>\u30b3\u30e9\u30fc\u30b2\u30f3\u7279\u7570\u7684\u5206\u5b50\u30b7\u30e3\u30da\u30ed\u30f3<\/strong>\u3067\u3001\u4e09\u91cd\u3089\u305b\u3093\u5f62\u6210\u5f8c\u306e\u30d7\u30ed\u30b3\u30e9\u30fc\u30b2\u30f3\u306b\u7d50\u5408\u3057\u3066\u51dd\u96c6\u3092\u9632\u304e\u3001ER\u304b\u3089\u30b4\u30eb\u30b8\u3078\u306e\u8f38\u9001\u3092\u4fdd\u8a3c\u3059\u308b\u3002\u6b20\u640d\u3059\u308b\u3068\u30d7\u30ed\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u5c0f\u80de\u4f53\u5185\u306b\u8caf\u7559\u3057\u3001<strong>\u30b3\u30e9\u30fc\u30b2\u30f3\u7dda\u7dad\u306e\u76f4\u5f84\u3068\u67b6\u6a4b\u306e\u7570\u5e38<\/strong>\u3092\u751f\u3058\u308b\u3002\u5831\u544a\u4f8b\u306f\u5c11\u6570\u3060\u304c\u3001<strong>\u9aa8\u4ee5\u5916\u306b\u76ae\u819a\u306e\u8106\u5f31\u6027\u30fb\u305d\u3051\u3044\u30d8\u30eb\u30cb\u30a2\u30fb\u814e\u7d50\u77f3\u3092\u4f34\u3046\u70b9\u3067\u300c\u7d50\u5408\u7d44\u7e54\u5168\u4f53\u306e\u75be\u60a3\u300d\u3068\u3057\u3066\u306e\u6027\u683c\u304c\u5f37\u3044<\/strong>\u3002\u306a\u304a\u672c\u907a\u4f1d\u5b50\u306f\u30c0\u30c3\u30af\u30b9\u30d5\u30f3\u30c8\u306e\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306e\u539f\u56e0\u3068\u3057\u3066\u3082\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p>\u6f5c\u6027\u578bOI\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u6a5f\u80fd\u7684\u306b\u3001<strong>\u24603-\u6c34\u9178\u5316\u8907\u5408\u4f53\uff08<em>CRTAP<\/em>\u3001<em>P3H1<\/em>\u3001<em>PPIB<\/em>\uff09\u3001\u2461\u30b7\u30e3\u30da\u30ed\u30f3\u30fb\u6298\u308a\u305f\u305f\u307f\uff08<em>SERPINH1<\/em>\u3001<em>FKBP10<\/em>\uff09\u3001\u2462\u67b6\u6a4b\u5f62\u6210\uff08<em>PLOD2<\/em>\u3001<em>BMP1<\/em>\uff09\u3001\u2463\u77f3\u7070\u5316\uff08<em>SERPINF1<\/em>\uff09\u3001\u2464\u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\uff08<em>SP7<\/em>\u3001<em>WNT1<\/em>\u3001<em>CREB3L1<\/em>\u3001<em>MBTPS2<\/em>\uff09<\/strong>\u306b\u6574\u7406\u3067\u304d\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff08<em>ALPL<\/em>\uff1a\u8840\u6e05ALP\u4f4e\u5024\u304c\u6c7a\u3081\u624b\uff09\u3001Bruck\u75c7\u5019\u7fa4\uff08\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\u3092\u4f34\u3046\uff09\u3001\u9aa8\u7c97\u9b06\u75c7\u507d\u6027\u30b0\u30ea\u30aa\u30fc\u30de\u75c7\u5019\u7fa4\uff08<em>LRP5<\/em>\uff09\u3001\u305d\u3057\u3066<strong>\u975e\u4e8b\u6545\u6027\u5916\u50b7\uff08\u8650\u5f85\uff09<\/strong>\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/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. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u5168\u4f53\u3067\u306f\u3001\u51fa\u751f1\u4e075\u5343\u4eba\u304b\u30892\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u578b\u306f1\u5272\u307b\u3069\u3067\u3001\u3053\u306e\u578b\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u904b\u52d5\u306f\u3057\u3066\u3082\u3088\u3044\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u5b89\u9759\u306b\u3057\u3059\u304e\u308b\u3068\u7b4b\u529b\u3068\u9aa8\u91cf\u304c\u3055\u3089\u306b\u843d\u3061\u3001\u304b\u3048\u3063\u3066\u9aa8\u6298\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u885d\u7a81\u306e\u306a\u3044\u904b\u52d5\u3001\u3068\u304f\u306b<strong>\u6c34\u4e2d\u904b\u52d5<\/strong>\u304c\u52e7\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e3b\u6cbb\u533b\u30fb\u7406\u5b66\u7642\u6cd5\u58eb\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u65b9\u306b\u5408\u3063\u305f\u904b\u52d5\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u9aa8\u6298\u306f\u7d9a\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u591a\u304f\u306e\u578b\u3067\u306f\u3001<strong>\u601d\u6625\u671f\u3092\u904e\u304e\u308b\u3068\u9aa8\u6298\u306e\u983b\u5ea6\u304c\u6e1b\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5973\u6027\u3067\u306f\u9589\u7d4c\u5f8c\u306b\u518d\u3073\u5897\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u96e3\u8074\u306f\u6210\u4eba\u671f\u306b\u9032\u3080\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u8074\u529b\u306e\u78ba\u8a8d\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ae\u819a\u3082\u5f31\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u9aa8\u3060\u3051\u3067\u306a\u304f\u76ae\u819a\u306a\u3069\u4f53\u3092\u652f\u3048\u308b\u7d44\u7e54\u5168\u4f53\u304c\u3082\u308d\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8ee2\u5012\u3084\u5916\u50b7\u306b\u6ce8\u610f\u3057\u3001\u6c17\u306b\u306a\u308b\u75c7\u72b6\u306f\u4e3b\u6cbb\u533b\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\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>A. \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>\u591a\u304f\u306e\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306f\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u5f62\uff08\u9855\u6027\u907a\u4f1d\uff09\u3067\u3059\u304c\u3001\u3053\u306e\u578b\u306f\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\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>Marini JC, Forlino A, B\u00e4chinger HP, et al. Osteogenesis imperfecta. <em>Nat Rev Dis Primers<\/em>. 2017;3:17052.<\/li>\n\n\n\n<li>Forlino A, Marini JC. Osteogenesis imperfecta. <em>Lancet<\/em>. 2016;387(10028):1657-1671.<\/li>\n\n\n\n<li>Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. <em>Am J Med Genet A<\/em>. 2014;164A(6):1470-1481.<\/li>\n\n\n\n<li>Christiansen HE, Schwarze U, Pyott SM, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. <em>Am J Hum Genet<\/em>. 2010;86(3):389-398.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136964","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\/136964","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\/136964\/revisions"}],"predecessor-version":[{"id":137282,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136964\/revisions\/137282"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136964"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}