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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>CLP1<\/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>\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\uff08PCH\uff09\u306f\u3001<strong>\u6a4b\u6838\u3068\u5c0f\u8133\u306e\u767a\u751f\u969c\u5bb3\u3092\u4e2d\u6838\u3068\u3059\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75c7\u5019\u7fa4\u7fa4<\/strong>\u3067\u3042\u308b\u3002\u75c5\u7406\u5b66\u7684\u306b\u306f\u3001<strong>\u6a4b\u6838\u30cb\u30e5\u30fc\u30ed\u30f3\u3068\u5c0f\u8133\u76ae\u8cea\u9846\u7c92\u7d30\u80de\u306e\u8131\u843d<\/strong>\u304c\u7279\u5fb4\u3067\u3001\u51fa\u751f\u524d\u306b\u59cb\u307e\u308a\u751f\u5f8c\u3082\u9032\u884c\u3059\u308b\u3002<strong>PCH1\u306f\u524d\u89d2\u7d30\u80de\u75c5\u5909\uff08\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u69d8\uff09\u3092\u4f34\u3046\u7fa4\uff08<em>EXOSC3<\/em>\u3001<em>VRK1<\/em>\u3001<em>SLC25A46<\/em>\uff09\u3001PCH2\u306f\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u7fa4\uff08<em>TSEN54<\/em> p.Ala307Ser\u5275\u59cb\u8005\u5909\u7570\uff09<\/strong>\u3067\u3001PCH4\/5\u3082\u540c\u907a\u4f1d\u5b50\u306e\u30a2\u30ec\u30eb\u75be\u60a3\u3067\u3042\u308b\u3002<\/p>\n\n\n<p><strong>CLP1<\/strong>\uff0811q12.1\uff09\u306fRNA\u30ad\u30ca\u30fc\u30bc\u3067\u3001<strong>tRNA\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u30a8\u30f3\u30c9\u30cc\u30af\u30ec\u30a2\u30fc\u30bc\uff08TSEN\uff09\u8907\u5408\u4f53\u3068\u4f1a\u5408\u3057\u3001\u30a4\u30f3\u30c8\u30ed\u30f3\u7531\u6765\u65ad\u7247\u306e\u4ee3\u8b1d\u3092\u62c5\u3046<\/strong>\u3002PCH2\u30fbPCH4\u306e\u539f\u56e0\u3067\u3042\u308b<em>TSEN54<\/em> \u306a\u3069\u3068\u540c\u4e00\u7d4c\u8def\u306b\u4f4d\u7f6e\u3059\u308b\u3002\u30c8\u30eb\u30b3\u7cfb\u96c6\u56e3\u306ep.Arg140His\u5275\u59cb\u8005\u5909\u7570\u306b\u3088\u308b\u75c7\u4f8b\u96c6\u7a4d\u304c\u3042\u308a\u3001<strong>\u753b\u50cf\u4e0a\u306f\u6a4b\u306e\u4f4e\u5f62\u6210\u304c\u8efd\u5ea6\u3067\u5c0f\u8133\u866b\u90e8\u30fb\u534a\u7403\u306e\u840e\u7e2e\u304c\u4e3b\u4f53<\/strong>\u3068\u3044\u3046\u70b9\u3067\u53e4\u5178\u7684PCH\u3068\u3084\u3084\u7570\u306a\u308b\u3002<strong>\u9032\u884c\u6027\u306e\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u969c\u5bb3\u3068\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u3044\u3001PCH1\uff08<em>EXOSC3<\/em> \u7b49\uff09\u3068\u306e\u81e8\u5e8a\u7684\u91cd\u306a\u308a<\/strong>\u304c\u3042\u308b\u3002<\/p>\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306f<strong>\u2460tRNA\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff08<em>TSEN54\/2\/34<\/em>\u3001<em>CLP1<\/em>\uff09\u3001\u2461\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2tRNA\u5408\u6210\u9175\u7d20\uff08<em>RARS2<\/em>\uff09\u3001\u2462RNA\u30a8\u30ad\u30bd\u30bd\u30fc\u30e0\uff08<em>EXOSC3\/8\/9<\/em>\uff09\u3001\u2463snRNA\u6210\u719f\uff08<em>TOE1<\/em>\uff09\u3001\u2464\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u4ee3\u8b1d\uff08<em>AMPD2<\/em>\uff09\u3001\u2465\u5c0f\u80de\u8f38\u9001\uff08<em>CHMP1A<\/em>\u3001<em>TBC1D23<\/em>\uff09<\/strong>\u306b\u96c6\u7d04\u3055\u308c\u3001<strong>\u3044\u305a\u308c\u3082RNA\u30fb\u305f\u3093\u3071\u304f\u8cea\u306e\u6052\u5e38\u6027\u7dad\u6301\u3068\u3044\u3046\u300c\u7d30\u80de\u306e\u57fa\u76e4\u6a5f\u80fd\u300d\u306b\u95a2\u308f\u308b<\/strong>\u70b9\u304c\u5171\u901a\u3059\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\uff08CDG-Ia\uff1a<em>PMM2<\/em>\uff09\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001Dandy-Walker\u5947\u5f62\u3001\u304a\u3088\u3073\u80ce\u5150\u671f\u306e\u4f4e\u9178\u7d20\u30fb\u611f\u67d3\u306b\u3088\u308b\u4e8c\u6b21\u6027\u5c0f\u8133\u4f4e\u5f62\u6210\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. \u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\u5168\u4f53\u3067\u3082\u975e\u5e38\u306b\u307e\u308c\u3067\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u3082\u3063\u3068\u3082\u591a\u3044PCH2\u578b\u3067\u3082\u3001\u5831\u544a\u4f8b\u306f\u4e16\u754c\u3067\u6570\u767e\u4f8b\u7a0b\u5ea6\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>\u598a\u5a20\u5f8c\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084MRI\u3067\u3001\u5c0f\u8133\u304c\u5c0f\u3055\u3044\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\u306b\u7279\u6709\u306e\u6240\u898b\u304c\u51fa\u305d\u308d\u3046\u306e\u306f\u598a\u5a20\u5f8c\u671f\u4ee5\u964d\u3067\u3001\u65e9\u3044\u6642\u671f\u306b\u306f\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3051\u3044\u308c\u3093\u304c\u5f37\u304f\u3001\u62b1\u3063\u3053\u3082\u96e3\u3057\u3044\u3067\u3059\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u5f37\u3044\u6613\u523a\u6fc0\u6027\u3084\u4e0d\u968f\u610f\u904b\u52d5\u306b\u3088\u308a\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u304c\u5927\u304d\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u85ac\u3067\u3084\u308f\u3089\u3052\u3089\u308c\u308b\u90e8\u5206\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u5728\u5b85\u533b\u7642\u3084\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u306e\u5229\u7528\u3082\u542b\u3081\u3001\u3054\u5bb6\u65cf\u3092\u652f\u3048\u308b\u4f53\u5236\u3092\u533b\u7642\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u8003\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u624b\u8db3\u306e\u529b\u304c\u5f90\u3005\u306b\u5f31\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u904b\u52d5\u3092\u3064\u304b\u3055\u3069\u308b\u795e\u7d4c\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u795e\u7d4c\u5185\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u3068\u9023\u643a\u3057\u306a\u304c\u3089\u3001\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u306f\u304b\u308a\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>Rudnik-Sch\u00f6neborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. <em>Am J Med Genet C Semin Med Genet<\/em>. 2014;166C(2):173-183.<\/li>\n\n\n\n<li>Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. <em>Orphanet J Rare Dis<\/em>. 2011;6:50.<\/li>\n\n\n\n<li>van Dijk T, Baas F, Barth PG, Poll-The BT. What&#8217;s new in pontocerebellar hypoplasia? An update on genes and subtypes. <em>Orphanet J Rare Dis<\/em>. 2018;13(1):92.<\/li>\n\n\n\n<li>Karaca E, Weitzer S, Pehlivan D, et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. <em>Cell<\/em>. 2014;157(3):636-650.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136989","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\/136989","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\/136989\/revisions"}],"predecessor-version":[{"id":137307,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136989\/revisions\/137307"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136989"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}