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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>ATR<\/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>\u30bb\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306f<strong>\u5fae\u5c0f\u982d\u6027\u539f\u767a\u6027\u5c0f\u4eba\u75c7\uff08microcephalic primordial dwarfism, MPD\uff09<\/strong>\u306e\u4e00\u578b\u3067\u3001<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u539f\u767a\u6027\u5c0f\u982d\u75c7\uff08MCPH\uff09\u3068\u9023\u7d9a\u3057\u305f\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong>\u3092\u306a\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f<strong>\u2460DNA\u640d\u50b7\u5fdc\u7b54\uff08<em>ATR<\/em>\u3001<em>ATRIP<\/em>\u3001<em>RBBP8<\/em>\u3001<em>NSMCE2<\/em>\uff09\u3001\u2461\u4e2d\u5fc3\u5c0f\u4f53\u30fb\u7d21\u9318\u4f53\uff08<em>CEP152<\/em>\u3001<em>CENPJ<\/em>\u3001<em>CEP63<\/em>\u3001<em>PLK4<\/em>\u3001<em>NIN<\/em>\uff09\u3001\u2462\u8907\u88fd\u30fb\u8ee2\u5199\uff08<em>DNA2<\/em>\u3001<em>TRAIP<\/em>\uff09<\/strong>\u306b\u6574\u7406\u3067\u304d\u3001\u3044\u305a\u308c\u3082<strong>\u300c\u5897\u6b96\u3059\u308b\u795e\u7d4c\u524d\u99c6\u7d30\u80de\u306e\u30b2\u30ce\u30e0\u5b89\u5b9a\u6027\u7dad\u6301\u300d<\/strong>\u3068\u3044\u3046\u5171\u901a\u70b9\u3092\u3082\u3064\u3002<\/p>\n\n\n<p><strong>ATR<\/strong>\uff083q23\uff09\u306fPIKK\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u30bb\u30ea\u30f3\/\u30c8\u30ec\u30aa\u30cb\u30f3\u30ad\u30ca\u30fc\u30bc\u3067\u3001<strong>\u8907\u88fd\u30b9\u30c8\u30ec\u30b9\u3068\u4e00\u672c\u9396DNA\u9818\u57df\u3092\u611f\u77e5\u3057\u3066CHK1\u3092\u6d3b\u6027\u5316\u3057\u3001S\u671f\u30c1\u30a7\u30c3\u30af\u30dd\u30a4\u30f3\u30c8\u3092\u767a\u52d5\u3059\u308b<\/strong>\u3002\u5831\u544a\u3055\u308c\u305f\u30bb\u30c3\u30b1\u30eb\u75c7\u5019\u7fa41\u578b\u306e\u5909\u7570\u306f<strong>\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306b\u5f71\u97ff\u3059\u308b\u4f4e\u5f62\u614b\u6027\u5909\u7570<\/strong>\u3067\u3042\u308a\u3001ATR\u6a5f\u80fd\u306e\u5b8c\u5168\u55aa\u5931\u306f\u80ce\u751f\u81f4\u6b7b\u3067\u3042\u308b\u3002\u795e\u7d4c\u524d\u99c6\u7d30\u80de\u306f\u5897\u6b96\u901f\u5ea6\u304c\u901f\u304f\u8907\u88fd\u30b9\u30c8\u30ec\u30b9\u3092\u53d7\u3051\u3084\u3059\u3044\u305f\u3081\u3001<strong>\u30c1\u30a7\u30c3\u30af\u30dd\u30a4\u30f3\u30c8\u7570\u5e38\u304c\u9078\u629e\u7684\u306b\u5c0f\u982d\u75c7\u3092\u3082\u305f\u3089\u3059<\/strong>\u3002<strong>ATR-Seckel\u7d30\u80de\u306f\u8907\u88fd\u30b9\u30c8\u30ec\u30b9\u8a98\u767a\u5264\u306b\u9ad8\u611f\u53d7\u6027\u3092\u793a\u3059<\/strong>\u305f\u3081\u3001\u6a5f\u80fd\u89e3\u6790\u306b\u3088\u308b\u5909\u7570\u306e\u75c5\u7684\u610f\u7fa9\u8a55\u4fa1\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>MOPD II\u578b\uff08<em>PCNT<\/em>\uff1a\u3082\u3084\u3082\u3084\u75c5\u69d8\u306e\u8133\u8840\u7ba1\u7570\u5e38\u3068\u30a4\u30f3\u30b9\u30ea\u30f3\u62b5\u6297\u6027\u7cd6\u5c3f\u75c5\u3092\u4f34\u3044\u3001\u77e5\u7684\u767a\u9054\u306f\u6bd4\u8f03\u7684\u826f\u597d\uff09<\/strong>\u3001Meier-Gorlin\u75c7\u5019\u7fa4\uff08\u5c0f\u8033\u75c7\u30fb\u819d\u84cb\u9aa8\u6b20\u640d\u3001\u77e5\u7684\u767a\u9054\u306f\u6b63\u5e38\uff09\u3001\u30ca\u30a4\u30df\u30fc\u30d8\u30f3\u75c7\u5019\u7fa4\uff08<em>NBN<\/em>\uff1a\u514d\u75ab\u4e0d\u5168\u3068\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\uff09\u3001\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\u3001Silver-Russell\u75c7\u5019\u7fa4\u3001\u304a\u3088\u3073<strong>\u80ce\u5150\u6027\u30a2\u30eb\u30b3\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u5148\u5929\u611f\u67d3\u306a\u3069\u306e\u74b0\u5883\u8981\u56e0<\/strong>\u304c\u6319\u304c\u308b\u3002<strong>MOPD II\u578b\u306f\u8133\u8840\u7ba1\u969c\u5bb3\u306b\u3088\u308b\u7a81\u7136\u6b7b\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u9451\u5225\u3068\u3057\u3066\u306e\u512a\u5148\u5ea6\u304c\u9ad8\u3044\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. \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\u6570\u767e\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u96c6\u56e3\u3067\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001<strong>\u7a0b\u5ea6\u306b\u306f\u5927\u304d\u306a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3068\u3001\u305d\u306e\u65b9\u306b\u5408\u3063\u305f\u6559\u80b2\u74b0\u5883\u306e\u8abf\u6574\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u30db\u30eb\u30e2\u30f3\u306f\u52b9\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3053\u306e\u75c5\u6c17\u306e\u4f4e\u8eab\u9577\u306f\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u4e0d\u8db3\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u7d30\u80de\u304c\u5897\u3048\u306b\u304f\u3044\u3053\u3068\u81ea\u4f53\u304c\u539f\u56e0\u3060\u304b\u3089\u3067\u3059\u3002\u9069\u5fdc\u306b\u3064\u3044\u3066\u306f\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u653e\u5c04\u7dda\u3092\u4f7f\u3046\u691c\u67fb\u306f\u907f\u3051\u305f\u307b\u3046\u304c\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306fDNA\u306e\u4fee\u5fa9\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u307e\u3059\u3002\u5fc5\u8981\u306a\u691c\u67fb\u306f\u884c\u3044\u307e\u3059\u304c\u3001\u7e70\u308a\u8fd4\u3057\u306eCT\u64ae\u5f71\u306a\u3069\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3001\u5fc5\u8981\u6700\u5c0f\u9650\u306b\u3059\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3068\u8003\u3048\u3089\u308c\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>Verloes A, Drunat S, Gressens P, Passemard S. Primary autosomal recessive microcephalies and Seckel syndrome spectrum disorders. In: <em>GeneReviews<\/em>. University of Washington, Seattle; 2020.<\/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>O&#8217;Driscoll M, Jeggo PA. The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders. <em>DNA Repair (Amst)<\/em>. 2008;7(7):1039-1050.<\/li>\n\n\n\n<li>O&#8217;Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. <em>Nat Genet<\/em>. 2003;33(4):497-501.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137010","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\/137010","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\/137010\/revisions"}],"predecessor-version":[{"id":137328,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137010\/revisions\/137328"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137010"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}