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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>KATNB1<\/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>\u6ed1\u8133\u75c7\u306f<strong>\u5927\u8133\u76ae\u8cea\u5f62\u6210\u7570\u5e38\uff08malformations of cortical development, MCD\uff09<\/strong>\u306e\u306a\u304b\u3067\u795e\u7d4c\u7d30\u80de\u79fb\u52d5\u969c\u5bb3\u306b\u5206\u985e\u3055\u308c\u308b\u3002<strong>type I\uff08classical, 4\u5c64\u69cb\u9020\uff09<\/strong>\u306f<em>PAFAH1B1<\/em>\uff08LIS1\uff09\u3001<em>DCX<\/em>\u3001<em>TUBA1A<\/em> \u306a\u3069\u306e\u5fae\u5c0f\u7ba1\u30fb\u30c0\u30a4\u30cb\u30f3\u95a2\u9023\u5206\u5b50\u304c\u539f\u56e0\u3067\u3001\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\u307e\u305f\u306fX\u9023\u9396\u5f62\u5f0f\u3092\u3068\u308b\u3002<strong>type II\uff08cobblestone\uff09<\/strong>\u306f\u8edf\u819c\u57fa\u5e95\u819c\u306e\u7834\u7dbb\u306b\u3088\u308b\u904e\u5270\u79fb\u52d5\u304c\u672c\u614b\u3067\u3001\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u7fa4\uff08<em>POMT1<\/em> \u7b49\uff09\u3001<em>LAMB1<\/em>\u3001<em>LAMC3<\/em>\u3001<em>GPR56<\/em>\u3001<em>TMTC3<\/em> \u304c\u539f\u56e0\u3068\u306a\u308b\u3002<\/p>\n\n\n<p><strong>KATNB1<\/strong>\uff0816q21\uff09\u306f\u30ab\u30bf\u30cb\u30f3p80\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3001\u89e6\u5a92\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8p60\uff08KATNA1\uff09\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057<strong>\u5fae\u5c0f\u7ba1\u306e\u5207\u65ad\u3068\u4e2d\u5fc3\u4f53\u30fb\u7d21\u9318\u4f53\u6975\u306e\u6a5f\u80fd<\/strong>\u3092\u5236\u5fa1\u3059\u308b\u3002\u6b20\u640d\u306f\u795e\u7d4c\u524d\u99c6\u7d30\u80de\u306e\u6709\u7cf8\u5206\u88c2\u7570\u5e38\u3068\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u3092\u62db\u304d\u3001<strong>NDE1\u578b\u3068\u540c\u69d8\u306emicrolissencephaly<\/strong>\u3092\u751f\u3058\u308b\u3002<strong>\u5c0f\u982d\u6ed1\u8133\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u5fae\u5c0f\u7ba1\u30fb\u4e2d\u5fc3\u4f53\u95a2\u9023\u5206\u5b50\u306b\u96c6\u4e2d\u3057\u3066\u304a\u308a<\/strong>\uff08<em>NDE1<\/em>\u3001<em>KATNB1<\/em>\u3001<em>WDR62<\/em>\u3001<em>TUBG1<\/em>\uff09\u3001\u300c\u6709\u7cf8\u5206\u88c2\u88c5\u7f6e\u306e\u7570\u5e38\u304c\u76ae\u8cea\u306e\u5927\u304d\u3055\u3068\u69cb\u9020\u306e\u4e21\u65b9\u3092\u6c7a\u3081\u308b\u300d\u3053\u3068\u3092\u793a\u3059\u3002<\/p>\n\n\n<p><strong>\u5c0f\u982d\u6ed1\u8133\u75c7\uff08microlissencephaly\uff09<\/strong>\u306f\u300c\u8457\u3057\u3044\u5c0f\u982d\u75c7\uff0b\u6ed1\u8133\u75c7\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u3001<em>NDE1<\/em>\u3001<em>KATNB1<\/em>\u3001<em>WDR62<\/em>\u3001<em>TUBG1<\/em> \u306a\u3069<strong>\u6709\u7cf8\u5206\u88c2\u88c5\u7f6e\u306e\u7570\u5e38\u304c\u539f\u56e0<\/strong>\u3067\u3042\u308a\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5f62\u5f0f\u3092\u3068\u308b\u3053\u3068\u304c\u591a\u3044\u3002<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u578b\u3067\u306f\u6b21\u5b50\u518d\u767a\u7387\u304c25%\u3068\u306a\u308b\u305f\u3081\u3001\u300c\u6ed1\u8133\u75c7\uff1d\u591a\u304f\u306f\u5b64\u767a\u300d\u3068\u3044\u3046\u4e00\u822c\u8ad6\u3092\u500b\u5225\u306e\u5bb6\u7cfb\u306b\u305d\u306e\u307e\u307e\u5f53\u3066\u306f\u3081\u306a\u3044\u3053\u3068\u304c\u91cd\u8981<\/strong>\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u6027\u30b5\u30a4\u30c8\u30e1\u30ac\u30ed\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u75c7\u3001\u30b8\u30ab\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u75c7\u3001\u80ce\u5150\u671f\u306e\u4f4e\u9178\u7d20\u6027\u865a\u8840\u6027\u969c\u5bb3\u306b\u3088\u308b\u4e8c\u6b21\u6027\u306e\u8133\u5f62\u6210\u7570\u5e38\u304c\u6319\u304c\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. \u6ed1\u8133\u75c7\u5168\u4f53\u3067\u306f\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a1\u301c\u6570\u4eba\u3068\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u578b\u306f\u3054\u304f\u4e00\u90e8\u3067\u3001\u3053\u306e\u578b\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u8133\u306e\u3057\u308f\u306f\u598a\u5a2026\u301c28\u9031\u3054\u308d\u304b\u3089\u5f62\u6210\u3055\u308c\u308b\u305f\u3081\u3001\u305d\u308c\u4ee5\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u598a\u5a20\u5f8c\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u80ce\u5150MRI\u3067\u3001\u8133\u8868\u304c\u306a\u3081\u3089\u304b\u3067\u3042\u308b\u3053\u3068\u30fb\u8133\u5ba4\u306e\u62e1\u5927\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3066\u3093\u304b\u3093\u306f\u6cbb\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u5b8c\u5168\u306b\u767a\u4f5c\u3092\u6b62\u3081\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002\u305f\u3060\u3057<strong>\u85ac\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u5de5\u592b\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u306e\u56de\u6570\u3092\u6e1b\u3089\u3057\u3001\u3054\u672c\u4eba\u304c\u904e\u3054\u3057\u3084\u3059\u3044\u72b6\u614b\u306b\u3059\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002<\/strong>\u3066\u3093\u304b\u3093\u306e\u5c02\u9580\u533b\u3068\u7d99\u7d9a\u7684\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u4f3c\u3066\u3044\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u982d\u304c\u6975\u7aef\u306b\u5c0f\u3055\u304f\u306a\u308b\u30bf\u30a4\u30d7\u306e\u6ed1\u8133\u75c7\u3067\u306f\u3001\u7d30\u80de\u5206\u88c2\u306e\u88c5\u7f6e\u306b\u304b\u304b\u308f\u308b\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\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. <strong>\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>\u6ed1\u8133\u75c7\u306b\u306f\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u578b\u3082\u3042\u308a\u3001\u78ba\u7387\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5fc5\u305a\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>Di Donato N, Chiari S, Mirzaa GM, et al. Lissencephaly: expanded imaging and clinical classification. <em>Am J Med Genet A<\/em>. 2017;173(6):1473-1488.<\/li>\n\n\n\n<li>Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. <em>Brain<\/em>. 2012;135(Pt 5):1348-1369.<\/li>\n\n\n\n<li>Devakumar D, Bamford A, Ferreira MU, et al. Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. <em>Lancet Infect Dis<\/em>. 2018;18(1):e1-e13.<\/li>\n\n\n\n<li>Mishra-Gorur K, \u00c7a\u011flayan AO, Schaffer AE, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. <em>Neuron<\/em>. 2014;84(6):1226-1239.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136993","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\/136993","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\/136993\/revisions"}],"predecessor-version":[{"id":137311,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136993\/revisions\/137311"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136993"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}