{"id":83579,"date":"2024-11-15T15:52:20","date_gmt":"2024-11-15T06:52:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83579"},"modified":"2026-03-04T12:58:43","modified_gmt":"2026-03-04T03:58:43","slug":"15q25-2-deletion-proximal-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/","title":{"rendered":"15q25.2\u6b20\u5931\uff08\u8fd1\u4f4d\uff09\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>15q25.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001EFL1\u3001RPS17\u3001WDR73\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u306b\u306fShwachman-Diamond\u75c7\u5019\u7fa42\u578b\uff08SDS2\uff09\u3001\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88404\u578b\uff08DBA4\uff09\u3001\u30ac\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa41\u578b\uff08GAMOS1\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/#%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/#%EF%BC%91_EFL1%E3%80%80%E3%82%B7%E3%83%A5%E3%83%90%E3%83%83%E3%83%8F%E3%83%9E%E3%83%B3%E3%83%BB%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E7%97%87%E5%80%99%E7%BE%A4_2%EF%BC%88Shwachman-Diamond_syndrome_2_SDS2%EF%BC%89\" >[\uff11_EFL1]\u3000\u30b7\u30e5\u30d0\u30c3\u30cf\u30de\u30f3\u30fb\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u75c7\u5019\u7fa4 2\uff08Shwachman-Diamond syndrome 2 (SDS2)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/#%EF%BC%92_RPS17%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80_4%EF%BC%88Diamond-Blackfan_anemia_4_DBA4%EF%BC%89\" >[\uff12_RPS17]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840 4\uff08Diamond-Blackfan anemia 4 (DBA4)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/#%EF%BC%93_WDR73%E3%80%80%E3%82%AE%E3%83%A3%E3%83%AD%E3%82%A6%E3%82%A7%E3%82%A4%E3%83%BB%E3%83%A2%E3%83%AF%E3%83%83%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4_1%EF%BC%88Galloway-Mowat_syndrome_1_GAMOS1%EF%BC%89\" >[\uff13_WDR73]\u3000\u30ae\u30e3\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa4 1\uff08Galloway-Mowat syndrome 1 (GAMOS1)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6c55c2342141e004b62c99e8dca52b8c-1024x20.png\" alt=\"15q25.2\u3000\" class=\"wp-image-91789\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong><strong>\u95a2\u9023\u75be\u60a3<\/strong><\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong><strong>Associated disease description(s)<\/strong><\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">EFL1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30b7\u30e5\u30d0\u30c3\u30cf\u30de\u30f3\u30fb\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u75c7\u5019\u7fa4 2<\/td><td class=\"has-text-align-center\" data-align=\"center\">Shwachman-Diamond syndrome 2 (SDS2)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">RPS17<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840 4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Diamond-Blackfan anemia 4 (DBA4)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">WDR73<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ae\u30e3\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa4 1<\/td><td class=\"has-text-align-center\" data-align=\"center\">Galloway-Mowat syndrome 1 (GAMOS1)<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"833\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo15-MeIcPdLXJaBQCCddYYAAABWU.png\" alt=\"chromo15 \" class=\"wp-image-91794\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_EFL1%E3%80%80%E3%82%B7%E3%83%A5%E3%83%90%E3%83%83%E3%83%8F%E3%83%9E%E3%83%B3%E3%83%BB%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E7%97%87%E5%80%99%E7%BE%A4_2%EF%BC%88Shwachman-Diamond_syndrome_2_SDS2%EF%BC%89\"><\/span>[\uff11_EFL1]\u3000\u30b7\u30e5\u30d0\u30c3\u30cf\u30de\u30f3\u30fb\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u75c7\u5019\u7fa4 2\uff08Shwachman-Diamond syndrome 2 (SDS2)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6c55c2342141e004b62c99e8dca52b8c-1024x20.png\" alt=\"15q25.2\u3000\" class=\"wp-image-91789\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/9b03a305a6214720eb5309304dc71c8f-1024x20.png\" alt=\"EFL1\u3000\" class=\"wp-image-91812\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Shwachman-Diamond\u75c7\u5019\u7fa42\u578b\uff08SDS2\uff09\u306f\u300115q25.2\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bEFL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u80cc\u666f\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u307e\u305aEFL1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3068\u5f79\u5272\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002EFL1\u907a\u4f1d\u5b50\u306f\u300c\u4f38\u9577\u56e0\u5b50\u69d8GTPase 1\u300d\uff08Elongation factor-like GTPase 1\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5185\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5408\u6210\u3059\u308b\u88c5\u7f6e\u3067\u3042\u308b\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u69cb\u6210\u8981\u7d20\u3001\u7279\u306b60S\u30ea\u30dc\u30bd\u30fc\u30e0\u5c0f\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u751f\u6210\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u30ea\u30dc\u30bd\u30fc\u30e0\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u969b\u306e\u4e2d\u5fc3\u7684\u306a\u5b58\u5728\u3067\u3042\u308a\u300160S\u30ea\u30dc\u30bd\u30fc\u30e0\u5c0f\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306840S\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u7d50\u5408\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>EFL1\u306f\u3001SBDS\u3068\u547c\u3070\u308c\u308b\u5225\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u5354\u529b\u3057\u3066\u3001GTP\uff08\u7d30\u80de\u5185\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f9b\u7d66\u3059\u308b\u5206\u5b50\uff09\u4f9d\u5b58\u7684\u306bEIF6\u3068\u3044\u3046\u5206\u5b50\u309260S\u30ea\u30dc\u30bd\u30fc\u30e0\u524d\u99c6\u4f53\u304b\u3089\u53d6\u308a\u9664\u304f\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u904e\u7a0b\u304c\u6b63\u5e38\u306b\u9032\u3080\u3053\u3068\u3067\u300160S\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306840S\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u7d50\u5408\u3057\u306680S\u30ea\u30dc\u30bd\u30fc\u30e0\u304c\u5f62\u6210\u3055\u308c\u3001\u7ffb\u8a33\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u306e\u30d7\u30ed\u30bb\u30b9\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001EIF6\u3092\u518d\u5229\u7528\u306e\u305f\u3081\u306b\u6838\u5185\u306b\u623b\u3057\u3001\u6838\u5185\u3067\u306e\u30ea\u30dc\u30bd\u30fc\u30e0RNA\uff08rRNA\uff09\u306e\u51e6\u7406\u3084\u6838\u5916\u8f38\u9001\u306b\u5bc4\u4e0e\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001EFL1\u306f\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u6a5f\u80fd\u3092\u652f\u3048\u308b\u4e0d\u53ef\u6b20\u306a\u8981\u7d20\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3721632_s.jpg\" alt=\"\u6b6f\u8eca\u3054\u3068\u304f\u7d30\u80de\u5185\u306e\u4ed5\u7d44\u307f\" class=\"wp-image-91867\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>EFL1\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001Shwachman-Diamond\u75c7\u5019\u7fa42\u578b\uff08SDS2\uff09\u306e\u767a\u75c7\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001Shwachman-Diamond\u75c7\u5019\u7fa4\uff08SDS\uff09\u306e\u4e00\u5f62\u614b\u3067\u3042\u308a\u3001\u8840\u6db2\u5b66\u7684\u7570\u5e38\u3001\u5916\u5206\u6ccc\u81b5\u6a5f\u80fd\u4e0d\u5168\u3001\u9aa8\u683c\u7570\u5e38\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u8840\u6db2\u5b66\u7684\u7570\u5e38\u306e\u4e2d\u3067\u3082\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u3001\u597d\u4e2d\u7403\uff08\u611f\u67d3\u3068\u6226\u3046\u767d\u8840\u7403\u306e\u4e00\u7a2e\uff09\u304c\u6e1b\u5c11\u3059\u308b\u300c\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u300d\u3067\u3042\u308a\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8ca7\u8840\u3084\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8840\u6db2\u5b66\u7684\u7570\u5e38\u306f\u9032\u884c\u3059\u308b\u3068\u3001\u9aa8\u9ac4\u4e0d\u5168\u3084\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u3001\u3055\u3089\u306b\u306f\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u3078\u3068\u767a\u5c55\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5916\u5206\u6ccc\u81b5\u6a5f\u80fd\u4e0d\u5168\u306f\u7279\u306b\u4e73\u5150\u671f\u306b\u9855\u8457\u3067\u3001\u81b5\u81d3\u304c\u6d88\u5316\u9175\u7d20\u3092\u5341\u5206\u306b\u5206\u6ccc\u3067\u304d\u306a\u304f\u306a\u308b\u305f\u3081\u3001\u6804\u990a\u5438\u53ce\u969c\u5bb3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3001\u6210\u9577\u9045\u5ef6\u304c\u751f\u3058\u307e\u3059\u3002\u9aa8\u683c\u7570\u5e38\u3067\u306f\u3001\u4f4e\u8eab\u9577\u3084\u9aa8\u7aef\u7dda\u306e\u7570\u5e38\uff08\u9aa8\u7aef\u7570\u5f62\u6210\uff09\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u6210\u9577\u306b\u3055\u3089\u306a\u308b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002SDS2\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3059\u308b\u305f\u3081\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u75c5\u7684\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3001\u5b50\u3069\u3082\u304cSDS2\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"451\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/908699_s.jpg\" alt=\"\u820c\u3001\u85ac\" class=\"wp-image-87099\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u5916\u5206\u6ccc\u81b5\u6a5f\u80fd\u4e0d\u5168\u3084\u9aa8\u9ac4\u6a5f\u80fd\u969c\u5bb3\u3068\u3044\u3063\u305f\u81e8\u5e8a\u7684\u6240\u898b\u306b\u52a0\u3048\u3001EFL1\u3092\u542b\u3080\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u6cbb\u7642\u306b\u3064\u3044\u3066\u306f\u3001\u5916\u5206\u6ccc\u81b5\u6a5f\u80fd\u4e0d\u5168\u306b\u5bfe\u3057\u3066\u7d4c\u53e3\u81b5\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A\u3001D\u3001E\u3001K\uff09\u306e\u88dc\u5145\u304c\u5fc5\u8981\u3067\u3059\u3002\u8840\u6db2\u5b66\u7684\u7570\u5e38\u306b\u306f\u8f38\u8840\u3084\u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u306e\u4f7f\u7528\u304c\u8003\u616e\u3055\u308c\u3001\u91cd\u7be4\u306a\u5834\u5408\u306b\u306f\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u9aa8\u683c\u7570\u5e38\u3084\u5185\u5206\u6ccc\u969c\u5bb3\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u306b\u5bfe\u3057\u3066\u3082\u3001\u305d\u308c\u305e\u308c\u306e\u5206\u91ce\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u6cbb\u7642\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u9032\u884c\u3092\u9069\u5207\u306b\u7ba1\u7406\u3057\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u8840\u7403\u6570\u3084\u9aa8\u9ac4\u306e\u72b6\u614b\u306e\u78ba\u8a8d\u3001\u6804\u990a\u72b6\u614b\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u306e\u6fc3\u5ea6\u6e2c\u5b9a\u3001\u9aa8\u5bc6\u5ea6\u8a55\u4fa1\u3001\u6210\u9577\u3068\u767a\u9054\u306e\u72b6\u6cc1\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u6b6f\u79d1\u691c\u8a3a\u3084\u767a\u9054\u691c\u67fb\u3082\u91cd\u8981\u3067\u3001\u6210\u9577\u671f\u306b\u5408\u308f\u305b\u305f\u9aa8\u683c\u306e\u8a55\u4fa1\u3084\u3001\u767a\u9054\u652f\u63f4\u3082\u4e26\u884c\u3057\u3066\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306eSDS\u60a3\u8005\u306b\u5bfe\u3057\u3066\u306f\u3001\u8840\u6db2\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u305f\u30cf\u30a4\u30ea\u30b9\u30af\u598a\u5a20\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u598a\u5a20\u4e2d\u3084\u51fa\u7523\u6642\u306b\u306f\u3001\u6bcd\u4f53\u3068\u80ce\u5150\u306e\u5065\u5eb7\u3092\u5b88\u308b\u305f\u3081\u306b\u7279\u5225\u306a\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001SDS\u3092\u6301\u3064\u5bb6\u7cfb\u3067\u306f\u3001\u5bb6\u65cf\u5185\u3067\u306e\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3059\u3002\u7121\u75c7\u72b6\u306e\u5bb6\u65cf\u3067\u3042\u3063\u3066\u3082\u3001\u907a\u4f1d\u7684\u691c\u67fb\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u4e88\u9632\u7b56\u3092\u8b1b\u3058\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23563734_s.jpg\" alt=\"\u6b8b\u308a\u306e\u4e00\u7dd2\u306b\u3044\u3089\u308c\u308b\u6642\u9593\u306f\u5927\u5207\u306b\" class=\"wp-image-91081\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Shwachman-Diamond\u75c7\u5019\u7fa42\u578b\u306f\u975e\u5e38\u306b\u591a\u69d8\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u6301\u3064\u8907\u96d1\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308b\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u60c5\u5831\u3092\u4f1d\u3048\u3001\u9069\u5207\u306a\u533b\u7642\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/13q14-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">13q14\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">13q14\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f\u63f4...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_RPS17%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80_4%EF%BC%88Diamond-Blackfan_anemia_4_DBA4%EF%BC%89\"><\/span>[\uff12_RPS17]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840 4\uff08Diamond-Blackfan anemia 4 (DBA4)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6c55c2342141e004b62c99e8dca52b8c-1024x20.png\" alt=\"15q25.2\u3000\" class=\"wp-image-91789\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/cdef5c3b4944e0b203c14c1f65731e70-1024x20.png\" alt=\"\" class=\"wp-image-91819\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88404\u578b\uff08Diamond-Blackfan Anemia 4\u3001\u4ee5\u4e0bDBA4\uff09\u306f\u300115q25.2\u306e\u30b2\u30ce\u30e0\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bRPS17\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u5c0f\u30ea\u30dc\u30bd\u30fc\u30e0\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u30bf\u30f3\u30d1\u30af\u8ceaeS17\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u69cb\u6210\u8981\u7d20\u3068\u3057\u3066\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u30ea\u30dc\u30bd\u30fc\u30e0\u306f\u7d30\u80de\u306e\u300c\u30bf\u30f3\u30d1\u30af\u8cea\u5de5\u5834\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u4fee\u5fa9\u306b\u6b20\u304b\u305b\u306a\u3044\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u91cd\u8981\u306a\u6a5f\u68b0\u3067\u3059\u3002\u3057\u304b\u3057\u3001RPS17\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306b\u5fc5\u8981\u306a\u30ea\u30dc\u30bd\u30fc\u30e0\u304c\u6b63\u5e38\u306b\u5f62\u6210\u3055\u308c\u305a\u3001RNA\u306e\u6298\u308a\u305f\u305f\u307f\u3084\u4fee\u98fe\u3001\u5207\u65ad\u306b\u7570\u5e38\u3092\u304d\u305f\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7d30\u80de\u306e\u6b63\u5e38\u306a\u767a\u9054\u3084\u6a5f\u80fd\u306b\u652f\u969c\u3092\u304d\u305f\u3057\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"453\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24266476_s.jpg\" alt=\"\u3066\u306e\u3072\u3089\u3067\u3053\u3053\u308d\" class=\"wp-image-91084\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DBA4\u3092\u542b\u3080\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08Diamond-Blackfan Anemia\u3001DBA\uff09\u306f\u3001\u5148\u5929\u6027\u9aa8\u9ac4\u4e0d\u5168\u75c7\u5019\u7fa4\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u8d64\u8840\u7403\u306e\u7523\u751f\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u300c\u6b63\u8272\u7d20\u6027\u30fb\u5927\u7403\u6027\u8ca7\u8840\u300d\u3067\u3059\u3002\u3053\u306e\u8ca7\u8840\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u767a\u75c7\u3057\u3001\u4e73\u5150\u306e\u7d0490\uff05\u304c\u751f\u5f8c\u6570\u30f6\u6708\u4ee5\u5185\u306b\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u69d8\u3005\u3067\u3001\u8efd\u3044\u75b2\u52b4\u611f\u304b\u3089\u80ce\u5150\u671f\u306b\u547d\u3092\u8105\u304b\u3059\u91cd\u5ea6\u306e\u8ca7\u8840\uff08\u975e\u514d\u75ab\u6027\u80ce\u5150\u6c34\u816b\uff09\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u9aa8\u9ac4\u691c\u67fb\u3067\u306f\u3001\u8d64\u82bd\u7403\uff08\u8d64\u8840\u7403\u306e\u524d\u99c6\u7d30\u80de\uff09\u306e\u9855\u8457\u306a\u6e1b\u5c11\u304c\u898b\u3089\u308c\u308b\u4e00\u65b9\u3067\u3001\u767d\u8840\u7403\u3084\u8840\u5c0f\u677f\u6570\u306f\u901a\u5e38\u3001\u6b63\u5e38\u7bc4\u56f2\u5185\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u60a3\u8005\u306e\u7d0430\uff5e50\uff05\u306b\u306f\u6210\u9577\u969c\u5bb3\u3084\u5148\u5929\u6027\u5947\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u982d\u84cb\u9854\u9762\u7570\u5e38\uff08\u4f8b: \u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u75c7\u5019\u7fa4\u3001\u53e3\u84cb\u88c2\uff09\u3001\u624b\u8db3\u306e\u7570\u5e38\uff08\u7279\u306b\u89aa\u6307\u3084\u4e0a\u80a2\u306e\u5947\u5f62\uff09\u3001\u5fc3\u81d3\u306e\u5947\u5f62\u3001\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7d0430\uff05\u306e\u60a3\u8005\u3067\u4f4e\u8eab\u9577\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6210\u4eba\u671f\u306b\u306f\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u3084\u9aa8\u8089\u816b\u306a\u3069\u306e\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DBA\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u306f\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u30bf\u30f3\u30d1\u30af\u8cea\u907a\u4f1d\u5b50\uff08RPS19\u3001RPS24\u3001RPS17\u306a\u3069\uff09\u306e\u5909\u7570\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u5168DBA\u60a3\u8005\u306e\u7d0430\uff05\u3067\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u898b\u3089\u308c\u3001\u305d\u306e\u591a\u304f\u306f\u30d8\u30c6\u30ed\u63a5\u5408\u6027\uff081\u3064\u306e\u30b3\u30d4\u30fc\u304c\u5909\u7570\uff09\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u5f62\u6210\u306e\u4e0d\u5168\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u751f\u3058\u3001\u7d30\u80de\u6b7b\u3084\u767a\u9054\u7570\u5e38\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306bRPS17\u306e\u5909\u7570\u306f\u975e\u5e38\u306b\u7a00\u3067\u3001\u3053\u308c\u307e\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306f\u3054\u304f\u5c11\u6570\u306b\u9650\u3089\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001RPS17\u306e\u6a5f\u80fd\u7570\u5e38\u304c\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u305d\u308c\u304c\u7d30\u80de\u6b7b\u3092\u8a98\u5c0e\u3059\u308b\u4ed5\u7d44\u307f\u304c\u5f90\u3005\u306b\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31133392_s.jpg\" alt=\"\u624b\u888b\" class=\"wp-image-90076\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DBA\u306e\u8a3a\u65ad\u306f\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3059\u308b\u5927\u7403\u6027\u8ca7\u8840\u3001\u8d64\u82bd\u7403\u306e\u6e1b\u5c11\u3001\u4ed6\u306e\u9aa8\u9ac4\u4e0d\u5168\u75c7\u5019\u7fa4\u306e\u5426\u5b9a\u3092\u57fa\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u901a\u3058\u3066\u3001DBA\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u307e\u305a\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30a4\u30c9\uff08\u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\uff09\u7642\u6cd5\u304c\u8a66\u307f\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u6cbb\u7642\u306f\u7279\u306b1\u6b73\u4ee5\u964d\u306e\u5b50\u4f9b\u306b\u52b9\u679c\u304c\u3042\u308a\u300180\uff05\u7a0b\u5ea6\u306e\u60a3\u8005\u3067\u8d64\u8840\u7403\u6570\u306e\u6539\u5584\u304c\u898b\u3089\u308c\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u7642\u6cd5\u304c\u52b9\u679c\u3092\u793a\u3055\u306a\u3044\u5834\u5408\u3084\u526f\u4f5c\u7528\u304c\u5f37\u3044\u5834\u5408\u306b\u306f\u3001\u8d64\u8840\u7403\u8f38\u8840\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306fDBA\u306e\u8840\u6db2\u5b66\u7684\u75c7\u72b6\u3092\u5b8c\u5168\u306b\u6cbb\u7652\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9069\u5408\u30c9\u30ca\u30fc\u306e\u78ba\u4fdd\u3084\u79fb\u690d\u306b\u4f34\u3046\u30ea\u30b9\u30af\u3082\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u5224\u65ad\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>DBA\u60a3\u8005\u306e\u9577\u671f\u7684\u306a\u7ba1\u7406\u3067\u306f\u3001\u8f38\u8840\u306b\u4f34\u3046\u9244\u904e\u5270\u75c7\uff08\u4f53\u5185\u306b\u9244\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3059\u308b\u72b6\u614b\uff09\u3084\u30b9\u30c6\u30ed\u30a4\u30c9\u306e\u526f\u4f5c\u7528\uff08\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3084\u6210\u9577\u969c\u5bb3\u306a\u3069\uff09\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002\u7279\u306b\u3001\u9577\u671f\u8f38\u8840\u304c\u5fc5\u8981\u306a\u5834\u5408\u306b\u306f\u3001\u9244\u30ad\u30ec\u30fc\u30c8\u7642\u6cd5\u3092\u901a\u3058\u3066\u4f53\u5185\u306e\u9244\u3092\u9664\u53bb\u3059\u308b\u6cbb\u7642\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001AML\u3084\u9aa8\u8089\u816b\u306a\u3069\u306e\u60aa\u6027\u816b\u760d\u3092\u65e9\u671f\u306b\u767a\u898b\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3084\u9aa8\u9ac4\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/29059170_s1.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u3061\u3087\u3093\u3061\u3087\u3093\" class=\"wp-image-91873\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u7684\u5074\u9762\u3067\u306f\u3001DBA\u306e\u591a\u304f\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u7a00\u306bX\u9023\u9396\u907a\u4f1d\u306e\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5834\u5408\u3001\u75c5\u539f\u6027\u5909\u7570\u3092\u6301\u3064\u89aa\u304b\u3089\u306f50\uff05\u306e\u78ba\u7387\u3067\u5b50\u4f9b\u306b\u5909\u7570\u304c\u907a\u4f1d\u3057\u307e\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u30ea\u30b9\u30af\u306e\u9ad8\u3044\u598a\u5a20\u306b\u304a\u3051\u308b\u65e9\u671f\u8a3a\u65ad\u3084\u9069\u5207\u306a\u7ba1\u7406\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>DBA\u306f\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a1\uff5e2\u4f8b\u3068\u3044\u3046\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u4e00\u65b9\u3001\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3084\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u304b\u3089\u898b\u904e\u3054\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u7591\u308f\u3057\u3044\u75c7\u4f8b\u3067\u306f\u5c02\u9580\u7684\u306a\u8a55\u4fa1\u3092\u53d7\u3051\u3001\u65e9\u671f\u306b\u9069\u5207\u306a\u8a3a\u65ad\u3092\u78ba\u7acb\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_WDR73%E3%80%80%E3%82%AE%E3%83%A3%E3%83%AD%E3%82%A6%E3%82%A7%E3%82%A4%E3%83%BB%E3%83%A2%E3%83%AF%E3%83%83%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4_1%EF%BC%88Galloway-Mowat_syndrome_1_GAMOS1%EF%BC%89\"><\/span>[\uff13_WDR73]\u3000\u30ae\u30e3\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa4 1\uff08Galloway-Mowat syndrome 1 (GAMOS1)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6c55c2342141e004b62c99e8dca52b8c-1024x20.png\" alt=\"15q25.2\u3000\" class=\"wp-image-91789\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7e7dc3a9a05e01b87c572964074dc242-1024x20.png\" alt=\"WDR73\u3000\" class=\"wp-image-91839\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ac\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa41\u578b\uff08Galloway-Mowat syndrome 1, GAMOS1\uff09\u306f\u300115q25.2\u907a\u4f1d\u5b50\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bWDR73\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u4e3b\u306b\u814e\u81d3\u3068\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08CNS\uff09\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u767a\u75c7\u306e\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\u3001\u5c0f\u982d\u75c7\uff08\u901a\u5e38\u306f\u982d\u90e8\u304c\u6b63\u5e38\u3088\u308a\u3082\u5c0f\u3055\u3044\u72b6\u614b\uff09\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3001\u3055\u3089\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u306e\u8907\u6570\u306e\u75c7\u72b6\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>WDR73\u907a\u4f1d\u5b50\u306f\u300cWD\u30ea\u30d4\u30fc\u30c8\u542b\u6709\u30bf\u30f3\u30d1\u30af\u8cea73\uff08WD repeat-containing protein 73\uff09\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7d30\u80de\u5185\u3067\u5fae\u5c0f\u7ba1\u3068\u547c\u3070\u308c\u308b\u69cb\u9020\u306e\u7d44\u7e54\u5316\u3084\u52d5\u614b\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5fae\u5c0f\u7ba1\u306f\u7d30\u80de\u306e\u5f62\u72b6\u3092\u652f\u3048\u3001\u7269\u8cea\u306e\u8f38\u9001\u3084\u7d30\u80de\u5206\u88c2\u306a\u3069\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u7d30\u80de\u69cb\u9020\u306e\u7dad\u6301\u3084\u7d30\u80de\u751f\u5b58\u80fd\u529b\u304c\u640d\u306a\u308f\u308c\u3001\u7d50\u679c\u3068\u3057\u3066GAMOS1\u306b\u7279\u6709\u306e\u75c5\u614b\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30627636_s.jpg\" alt=\"\u30d1\u30fc\u30c4\" class=\"wp-image-90849\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>GAMOS1\u306e\u75c7\u72b6\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305a\u3001\u5c0f\u982d\u75c7\u306f\u51fa\u751f\u6642\u304b\u3089\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u51fa\u751f\u5f8c\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u6ed1\u8133\u75c7\uff08lissencephaly, \u901a\u5e38\u3088\u308a\u8133\u56de\u304c\u5c11\u306a\u3044\u72b6\u614b\uff09\u3001\u5c11\u56de\u8ee2\u8133\u75c7\uff08pachygyria, \u8133\u56de\u304c\u592a\u304f\u3066\u6570\u304c\u5c11\u306a\u3044\u72b6\u614b\uff09\u3001\u591a\u56de\u8ee2\u8133\u75c7\uff08polymicrogyria, \u7570\u5e38\u306b\u7d30\u304b\u3044\u8133\u56de\u304c\u3042\u308b\u72b6\u614b\uff09\u3001\u304a\u3088\u3073\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u9854\u8c8c\u306b\u3082\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4f8b\u3048\u3070\u5c0f\u3055\u304f\u72ed\u3044\u984d\u3001\u5927\u304d\u304f\u67d4\u3089\u304b\u3044\u8033\u3001\u5965\u307e\u3063\u305f\u76ee\u3001\u9ad8\u8ddd\u96e2\u773c\u9593\u9694\uff08\u4e21\u76ee\u306e\u9593\u304c\u5e83\u3044\uff09\u3001\u304a\u3088\u3073\u5c0f\u984e\u75c7\uff08\u4e0b\u984e\u304c\u5c0f\u3055\u3044\uff09\u306a\u3069\u304c\u5178\u578b\u7684\u3067\u3059\u3002\u307e\u305f\u3001\u8996\u899a\u969c\u5bb3\u3084\u30af\u30e2\u6307\u75c7\uff08\u624b\u6307\u304c\u7d30\u9577\u3044\u72b6\u614b\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u814e\u81d3\u3078\u306e\u5f71\u97ff\u306f\u3001\u8efd\u5ea6\u306e\u86cb\u767d\u5c3f\u304b\u3089\u59cb\u307e\u308a\u3001\u9032\u884c\u6027\u306e\u30b9\u30c6\u30ed\u30a4\u30c9\u62b5\u6297\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\uff08NS\uff09\u306b\u81f3\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u65e9\u3044\u6bb5\u968e\u3067\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u814e\u969c\u5bb3\u306f\u901a\u5e38\u3001\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3057\u9032\u884c\u304c\u65e9\u3044\u305f\u3081\u3001\u614e\u91cd\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s-1.jpg\" alt=\"\u624b\u624b(\u624b)\" class=\"wp-image-88946\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u7814\u7a76\u3067\u3001WDR73\u304c\u814e\u81d3\u306e\u7cf8\u7403\u4f53\uff08\u814e\u81d3\u3067\u5c3f\u3092\u308d\u904e\u3059\u308b\u69cb\u9020\uff09\u304a\u3088\u3073\u8133\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5468\u671f\u306b\u3088\u3063\u3066\u7d30\u80de\u5185\u3067\u306e\u5206\u5e03\u304c\u5909\u5316\u3057\u3001\u9593\u671f\u3067\u306f\u7d30\u80de\u8cea\u5168\u4f53\u306b\u5e83\u304c\u308a\u307e\u3059\u304c\u3001\u5206\u88c2\u671f\u3067\u306f\u7d21\u9318\u4f53\u6975\u3084\u661f\u72b6\u5fae\u5c0f\u7ba1\u306b\u96c6\u4e2d\u3059\u308b\u3053\u3068\u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u52d5\u614b\u306f\u3001\u5fae\u5c0f\u7ba1\u306e\u7d44\u7e54\u5316\u3084\u7d30\u80de\u5206\u88c2\u306e\u904e\u7a0b\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001GAMOS1\u306e\u6cbb\u7642\u306f\u75c7\u72b6\u306e\u7ba1\u7406\u306b\u91cd\u70b9\u3092\u7f6e\u3044\u3066\u304a\u308a\u3001\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3001\u814e\u6a5f\u80fd\u306e\u76e3\u8996\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u6804\u990a\u7ba1\u7406\u306a\u3069\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u814e\u81d3\u3068\u8133\u306b\u8907\u96d1\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u5c02\u9580\u7684\u30b1\u30a2\u304c\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3059\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001WDR73\u907a\u4f1d\u5b50\u306f\u300cWD40\u30ea\u30d4\u30fc\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u69cb\u9020\u3092\u6301\u3061\u3001\u3053\u306e\u69cb\u9020\u306f\u7d30\u80de\u5185\u3067\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u53ef\u80fd\u306b\u3057\u3001\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u5f62\u6210\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306eWD40\u30ea\u30d4\u30fc\u30c8\u306e\u6b20\u640d\u3084\u5909\u7570\u306f\u3001WDR73\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u59a8\u3052\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u814e\u81d3\u3084\u8133\u306b\u304a\u3051\u308b\u75be\u60a3\u306e\u9032\u884c\u306b\u3082\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ac\u30ed\u30a6\u30a7\u30a4\u30fb\u30e2\u30ef\u30c3\u30c8\u75c7\u5019\u7fa41\u578b\u306f\u3001\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u4e00\u65b9\u3067\u591a\u69d8\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u6301\u3064\u305f\u3081\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u306b\u3088\u308b\u75c5\u614b\u306e\u7406\u89e3\u3068\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u3084\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u533b\u7642\u3084\u751f\u6d3b\u306e\u9078\u629e\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/11q23-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">11q23\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">11q23\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u306e\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/\">Perlman S. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2014.10.011\">Colin, E., Huynh Cong, E., Mollet, G., Guichet, A., Gribouval, O., Arrondel, C., Boyer, O., Daniel, L., Gubler, M. C., Ekinci, Z., Tsimaratos, M., Chabrol, B., Boddaert, N., Verloes, A., Chevrollier, A., Gueguen, N., Desquiret-Dumas, V., Ferr\u00e9, M., Procaccio, V., Richard, L., \u2026 Antignac, C. (2014). Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. <em>American journal of human genetics<\/em>, <em>95<\/em>(6), 637\u2013648. https:\/\/doi.org\/10.1016\/j.ajhg.2014.10.011<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/\">Sieff C. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2008.11.004\">Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O&#8217;Donohue, M. F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., Matysiak, M., Zaucha, J. M., Glader, B., Niemeyer, C., Meerpohl, J. J., Atsidaftos, E., Lipton, J. M., Gleizes, P. E., \u2026 Beggs, A. H. (2008). Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. <em>American journal of human genetics<\/em>, <em>83<\/em>(6), 769\u2013780. https:\/\/doi.org\/10.1016\/j.ajhg.2008.11.004<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1756\/\">Nelson A, Myers K. Shwachman-Diamond Syndrome. 2008 Jul 17 [Updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1756\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u308115q25.2\u6b20\u5931\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":73166,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83579","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83579","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83579"}],"version-history":[{"count":14,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83579\/revisions"}],"predecessor-version":[{"id":125363,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83579\/revisions\/125363"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/73166"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83579"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83579"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83579"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}