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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>CDC45<\/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>\u30de\u30a4\u30e4\u30fc\u30fb\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08MGORS\uff09\u306f<strong>\u539f\u767a\u6027\u5c0f\u4eba\u75c7\uff08primordial dwarfism\uff09\u306e\u3072\u3068\u3064<\/strong>\u3067\u3001<strong>DNA\u8907\u88fd\u524d\u8907\u5408\u4f53\uff08pre-replication complex, pre-RC\uff09\u306e\u69cb\u6210\u56e0\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u6027\u4f4e\u5f62\u614b\u6027\u5909\u7570<\/strong>\u306b\u3088\u308a\u751f\u3058\u308b\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f<strong><em>ORC1<\/em>\u3001<em>ORC4<\/em>\u3001<em>ORC6<\/em>\u3001<em>CDT1<\/em>\u3001<em>CDC6<\/em>\u3001<em>CDC45<\/em>\u3001<em>MCM5<\/em><\/strong>\u3067\u3001<strong><em>GMNN<\/em>\uff08\u30b8\u30a7\u30df\u30cb\u30f3\uff09\u306e\u307f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u5f62\u5f0f<\/strong>\u3092\u3068\u308b\u3002\u3053\u308c\u3089\u306f\u7dcf\u79f0\u3057\u3066<strong>\u300c\u30ec\u30d7\u30ea\u30bd\u30e2\u30d1\u30c1\u30fc\uff08replisomopathy\uff09\u300d<\/strong>\u3068\u547c\u3070\u308c\u308b\u3002<\/p>\n\n\n<p><strong>CDC45<\/strong>\uff0822q11.21\uff09\u306fGINS\u8907\u5408\u4f53\u30fbMCM2-7\u3068\u3068\u3082\u306b<strong>CMG\uff08CDC45-MCM-GINS\uff09\u30d8\u30ea\u30ab\u30fc\u30bc<\/strong>\u3092\u5f62\u6210\u3057\u3001S\u671f\u306b\u304a\u3051\u308b\u8907\u88fd\u30d5\u30a9\u30fc\u30af\u306e\u9032\u884c\u3092\u53ef\u80fd\u306b\u3059\u308b\u3002pre-RC\u5f62\u6210\uff08\u30e9\u30a4\u30bb\u30f3\u30b7\u30f3\u30b0\uff09\u3067\u306f\u306a\u304f<strong>\u305d\u306e\u6d3b\u6027\u5316\u6bb5\u968e<\/strong>\u306b\u4f4d\u7f6e\u3059\u308b\u305f\u3081\u3001\u4ed6\u306e\u30de\u30a4\u30e4\u30fc\u30fb\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306f\u3084\u3084\u7570\u306a\u308b\u3002<strong>\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u5408\u4f75\u306f\u672c\u578b\u306b\u7279\u5fb4\u7684<\/strong>\u3067\u3001\u300c\u5c0f\u8033\u75c7\uff0b\u819d\u84cb\u9aa8\u6b20\u640d\uff0b\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u307f\u305f\u3089\u672c\u907a\u4f1d\u5b50\u3092\u8003\u3048\u308b\u3002\u672c\u907a\u4f1d\u5b50\u306f22q11.2\u6b20\u5931\u9818\u57df\u5185\u306b\u3042\u308b\u304c\u3001<strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u306f\u672c\u75c7\u5019\u7fa4\u3068\u306f\u5225<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>\u30bb\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\uff08<em>ATR<\/em>\u3001<em>ATRIP<\/em> \u306a\u3069\uff1a\u5c0f\u982d\u75c7\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u524d\u666f\uff09<\/strong>\u3001MOPD II\u578b\uff08<em>PCNT<\/em>\uff1a\u5c0f\u982d\u75c7\u30fb\u8133\u8840\u7ba1\u7570\u5e38\u30fb\u7cd6\u5c3f\u75c5\uff09\u3001Silver-Russell\u75c7\u5019\u7fa4\uff08\u8eab\u4f53\u306e\u5de6\u53f3\u5dee\u30fb11p15\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\uff09\u3001\u306a\u3089\u3073\u306b<strong>\u5c0f\u8033\u75c7\u3092\u4f34\u3046\u75c7\u5019\u7fa4\uff08Treacher Collins\u75c7\u5019\u7fa4\u3001Goldenhar\u75c7\u5019\u7fa4\uff09<\/strong>\u304c\u6319\u304c\u308b\u3002<strong>\u30de\u30a4\u30e4\u30fc\u30fb\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306f\u5c0f\u982d\u75c7\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u308f\u306a\u3044\u70b9\u3067\u4ed6\u306e\u539f\u767a\u6027\u5c0f\u4eba\u75c7\u3068\u533a\u5225\u3055\u308c\u308b<\/strong>\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u306e\u70b9\u306f\u5bb6\u65cf\u3078\u306e\u8aac\u660e\u306b\u304a\u3044\u3066\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. \u4e16\u754c\u3067\u767e\u6570\u5341\u4f8b\u307b\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u819d\u306e\u304a\u76bf\u304c\u306a\u3044\u3068\u6b69\u3051\u307e\u305b\u3093\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u819d\u84cb\u9aa8\u304c\u306a\u304f\u3066\u3082\u6b69\u884c\u3067\u304d\u308b\u65b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u819d\u306e\u5b89\u5b9a\u6027\u304c\u4f4e\u304f\u3001\u6b69\u304d\u59cb\u3081\u304c\u9045\u308c\u305f\u308a\u3001\u8ee2\u3073\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3084\u88c5\u5177\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u8eab\u9577\u306f\u3069\u306e\u304f\u3089\u3044\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u6210\u4eba\u8eab\u9577\u306f\u5e73\u5747\u3088\u308a\u4f4e\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684<\/strong>\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u3068\u500b\u5225\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u982d\u306e\u5f62\u304c\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u982d\u84cb\u9aa8\u306e\u3064\u306a\u304e\u76ee\u304c\u65e9\u304f\u9589\u3058\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u306e\u5f62\u3068\u982d\u56f2\u306e\u4f38\u3073\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8133\u795e\u7d4c\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u3067\u8a55\u4fa1\u3057\u307e\u3059\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. \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\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\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>de Munnik SA, Hoefsloot EH, Roukema J, et al. Meier-Gorlin syndrome. <em>Orphanet J Rare Dis<\/em>. 2015;10:114.<\/li>\n\n\n\n<li>Bicknell LS, Walker S, Klingseisen A, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. <em>Nat Genet<\/em>. 2011;43(4):356-359.<\/li>\n\n\n\n<li>Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. <em>Genes Dev<\/em>. 2011;25(19):2011-2024.<\/li>\n\n\n\n<li>Fenwick AL, Kliszczak M, Cooper F, et al. Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. <em>Am J Hum Genet<\/em>. 2016;99(1):125-138.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136998","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\/136998","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\/136998\/revisions"}],"predecessor-version":[{"id":137316,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136998\/revisions\/137316"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}