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class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406\u304c\u3082\u3063\u3068\u3082\u91cd\u8981\u3067\u3059<\/strong>\uff1a\u9178\u7d20\u6295\u4e0e\u3001\u4eba\u5de5\u547c\u5438\u5668\u3001\u6c17\u7ba1\u5207\u958b\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80f8\u90ed\u3092\u5e83\u3052\u308b\u624b\u8853<\/strong>\uff08\u80f8\u90ed\u62e1\u5f35\u8853\u3001VEPTR\u306a\u3069\uff09\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\uff08\u3068\u304f\u306b\u6c17\u9053\u611f\u67d3\uff09\u306e\u4e88\u9632\u3068\u65e9\u671f\u6cbb\u7642<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff08\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u814e\u4e0d\u5168\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u809d\u6a5f\u80fd\u3001\u773c\u79d1\uff08\u7db2\u819c\uff09\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/li>\n\n\n\n<li>\u591a\u6307\u75c7\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/li>\n\n\n\n<li>\u6804\u990a\u306e\u7ba1\u7406\u3001\u7406\u5b66\u7642\u6cd5<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>DYNC2I1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 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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\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\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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u77ed\u808b\u9aa8\u80f8\u90ed\u7570\u5f62\u6210\u75c78\u578b\uff08\u591a\u6307\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\uff09\u306f <strong>DYNC2I1<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u77ed\u808b\u9aa8\u80f8\u90ed\u7570\u5f62\u6210\u75c7\uff08short-rib thoracic dysplasia, SRTD\uff09\u306f\u3001<strong>\u7e4a\u6bdb\u5185\u8f38\u9001\uff08intraflagellar transport, IFT\uff09<\/strong>\u306e\u969c\u5bb3\u306b\u3088\u308b\u9aa8\u7cfb\u7d71\u7e4a\u6bdb\u75c5\uff08skeletal ciliopathy\uff09\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>IFT\u306f\u3001\u7e4a\u6bdb\u306e\u5148\u7aef\u65b9\u5411\u3078\u904b\u3076<strong>IFT-B\u8907\u5408\u4f53\uff0b\u30ad\u30cd\u30b7\u30f32<\/strong>\u3068\u3001\u57fa\u90e8\u65b9\u5411\u3078\u623b\u3059<strong>IFT-A\u8907\u5408\u4f53\uff0b\u7d30\u80de\u8cea\u30c0\u30a4\u30cb\u30f32<\/strong>\u304b\u3089\u6210\u308b\u3002\u6210\u9577\u677f\u8edf\u9aa8\u7d30\u80de\u3067\u306f\u3001\u3053\u306e\u8f38\u9001\u3092\u4ecb\u3057\u305f\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08Ihh\uff09\u30b7\u30b0\u30ca\u30eb\u306e\u5236\u5fa1\u304c\u5185\u8edf\u9aa8\u6027\u9aa8\u5316\u3092\u898f\u5b9a\u3059\u308b\u305f\u3081\u3001\u305d\u306e\u7834\u7dbb\u304c\u808b\u9aa8\u30fb\u56db\u80a2\u306e\u77ed\u7e2e\u3092\u3082\u305f\u3089\u3059\u3002<\/p>\n\n\n\n<p><strong>DYNC2I1<\/strong>\uff087q36.3\u3001\u65e7WDR60\uff09\u306f\u7d30\u80de\u8cea\u30c0\u30a4\u30cb\u30f32\u8907\u5408\u4f53\u306e\u4e2d\u9593\u9396\u3067\u3001DYNC2H1\uff08\u91cd\u9396\uff09\u3001DYNC2I2\/WDR34\u3001DYNLT2B \u306a\u3069\u3068\u3068\u3082\u306b\u9006\u884c\u6027IFT\u30e2\u30fc\u30bf\u30fc\u3092\u69cb\u6210\u3059\u308b\u3002<strong>\u30c0\u30a4\u30cb\u30f32\u8907\u5408\u4f53\u306e\u5404\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u5909\u7570\u304c\u3001\u3044\u305a\u308c\u3082SRTD\u3092\u751f\u3058\u308b<\/strong>\uff08DYNC2H1\uff1d3\u578b\u3001DYNC2I1\uff1d8\u578b\u3001DYNC2I2\uff1d11\u578b\uff09\u3002\u8868\u73fe\u578b\u306f\u91cd\u9396\u5909\u7570\u3088\u308a\u3084\u3084\u8efd\u3044\u50be\u5411\u304c\u3042\u308b\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306b\u306f\u3001<strong>\u5f93\u6765\u306e Jeune \u75c7\u5019\u7fa4\uff08\u7a92\u606f\u6027\u80f8\u90ed\u7570\u5f62\u6210\u75c7\uff09\u3001\u77ed\u808b\u9aa8\u591a\u6307\u75c7\u5019\u7fa4\uff08Saldino-Noonan\u3001Majewski\u3001Verma-Naumoff\u3001Beemer-Langer\u578b\uff09\u3001Ellis-van Creveld\u75c7\u5019\u7fa4\u3001Sensenbrenner\u75c7\u5019\u7fa4\uff08\u982d\u84cb\u5916\u80da\u8449\u7570\u5f62\u6210\u75c7\uff09\u306f\u3001\u540c\u4e00\u306eIFT\u7d4c\u8def\u4e0a\u306b\u3042\u308b\u9023\u7d9a\u3057\u305f\u75be\u60a3\u7fa4<\/strong>\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u308b\u3002\u540c\u3058\u907a\u4f1d\u5b50\u304c\u3001\u5909\u7570\u306e\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u5468\u7523\u671f\u81f4\u6b7b\u578b\u304b\u3089\u6210\u4eba\u671f\u306e\u814e\u969c\u5bb3\u5358\u72ec\u307e\u3067\u751f\u3058\u3046\u308b\u3002<strong>\u4e88\u5f8c\u3092\u898f\u5b9a\u3059\u308b\u306e\u306f\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u969c\u5bb3\u3067\u3042\u308a\u3001\u3053\u308c\u3092\u4e57\u308a\u5207\u3063\u305f\u75c7\u4f8b\u3067\u306f\u5b66\u7ae5\u671f\u4ee5\u964d\u306e\u814e\u4e0d\u5168\u304c\u554f\u984c\u3068\u306a\u308b<\/strong>\u305f\u3081\u3001\u9577\u671f\u306e\u814e\u6a5f\u80fd\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u304c\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u547c\u5438\u306f\u5927\u4e08\u592b\u3067\u3057\u3087\u3046\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u80f8\u90ed\u304c\u72ed\u3044\u305f\u3081\u3001\u547c\u5438\u306e\u7ba1\u7406\u304c\u3082\u3063\u3068\u3082\u91cd\u8981<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u306b\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u547c\u5438\u306e\u6e96\u5099\u304c\u3067\u304d\u308b\u65bd\u8a2d\u3067\u306e\u5206\u5a29\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u80f8\u90ed\u3092\u5e83\u3052\u308b\u624b\u8853\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u80f8\u90ed\u62e1\u5f35\u8853\u3068\u3044\u3046\u65b9\u6cd5\u304c\u3042\u308a\u3001\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9069\u5fdc\u3068\u6642\u671f\u306f\u3001\u547c\u5438\u306e\u72b6\u614b\u3068\u6210\u9577\u306b\u5fdc\u3058\u3066\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u814e\u81d3\u306e\u691c\u67fb\u306f\u306a\u305c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001<strong>\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u814e\u81d3\u306e\u306f\u305f\u3089\u304d\u304c\u4f4e\u4e0b\u3059\u308b<\/strong>\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u547c\u5438\u306e\u554f\u984c\u3092\u4e57\u308a\u8d8a\u3048\u305f\u3042\u3068\u306b\u5927\u5207\u306b\u306a\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6307\u304c\u591a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u578b\u3068\u500b\u4eba\u306b\u3088\u3063\u3066\u3001\u591a\u6307\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6574\u5f62\u5916\u79d1\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30e2\u30fc\u30bf\u30fc\u306e\u90e8\u54c1\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u7e4a\u6bdb\u306e\u306a\u304b\u3067\u6750\u6599\u3092\u623b\u3059\u300c\u30e2\u30fc\u30bf\u30fc\u300d\u3092\u69cb\u6210\u3059\u308b\u90e8\u54c1\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u540c\u3058\u30e2\u30fc\u30bf\u30fc\u306e\u5225\u306e\u90e8\u54c1\u3067\u3082\u3001\u3088\u304f\u4f3c\u305f\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>McInerney-Leo AM, Schmidts M, Cort\u00e9s CR, et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. <em>Am J Hum Genet<\/em>. 2013;93(3):515-523.<\/li>\n\n\n\n<li>Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. <em>Am J Med Genet C Semin Med Genet<\/em>. 2012;160C(3):165-174.<\/li>\n\n\n\n<li>Schmidts M. Clinical genetics and pathobiology of ciliary chondrodysplasias. <em>J Pediatr Genet<\/em>. 2014;3(2):46-94.<\/li>\n\n\n\n<li>Zhang W, Taylor SP, Nevarez L, et al. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. <em>Hum Mol Genet<\/em>. 2016;25(18):4012-4020.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136845","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\/136845","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\/136845\/revisions"}],"predecessor-version":[{"id":137213,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136845\/revisions\/137213"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136845"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}