{"id":83655,"date":"2024-11-15T17:20:20","date_gmt":"2024-11-15T08:20:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83655"},"modified":"2025-08-25T16:23:00","modified_gmt":"2025-08-25T07:23:00","slug":"xq22-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq22-3-deletion-syndrome\/","title":{"rendered":"Xq22.3 \u30c6\u30ed\u30e1\u30a2\u6b20\u5931\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>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002CLDN2\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3059\u308b\u81b5\u708e\u3001PRPS1\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u591a\u5f69\u306a\u75c7\u72b6\u3001COL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u5fb4\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u65b9\u6cd5\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u307e\u3068\u3081\u307e\u3057\u305f\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq22-3-deletion-syndrome\/#%EF%BC%91_CLDN2%E3%80%80%E8%86%B5%E7%82%8E%EF%BC%88Pancreatitis%EF%BC%89\" >[\uff11_CLDN2]\u3000\u81b5\u708e\uff08Pancreatitis\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\/xq22-3-deletion-syndrome\/#%EF%BC%92_PRPS1%E3%80%80PRPS1%E6%AC%A0%E6%90%8D%E7%97%87%E3%80%81Charcot-Marie-Tooth%EF%BC%88CMT%EF%BC%89%E9%81%BA%E4%BC%9D%E6%80%A7%E7%A5%9E%E7%B5%8C%E9%9A%9C%E5%AE%B3%E3%80%81%E9%81%BA%E4%BC%9D%E6%80%A7%E9%9B%A3%E8%81%B4%E3%80%81PRPS1%E9%81%8E%E5%89%B0%E6%B4%BB%E6%80%A7%E7%97%87%EF%BC%88Phosphoribosylpyrophosphate_Synthetase_Deficiency_Charcot-Marie-Tooth_Hereditary_Neuropathy_Overview_Genetic_Hearing_Loss_and_Phosphoribosylpyrophosphate_Synthetase_Superactivity%EF%BC%89\" >[\uff12_PRPS1]\u3000PRPS1\u6b20\u640d\u75c7\u3001Charcot-Marie-Tooth\uff08CMT\uff09\u907a\u4f1d\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u96e3\u8074\u3001PRPS1\u904e\u5270\u6d3b\u6027\u75c7\uff08Phosphoribosylpyrophosphate Synthetase Deficiency , Charcot-Marie-Tooth Hereditary Neuropathy Overview, Genetic Hearing Loss, and Phosphoribosylpyrophosphate Synthetase Superactivity\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\/xq22-3-deletion-syndrome\/#%EF%BC%93_COL4A5%E3%80%80%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4_%E9%81%BA%E4%BC%9D%E6%80%A7%E8%83%B8%E9%83%A8%E5%A4%A7%E5%8B%95%E8%84%88%E7%96%BE%E6%82%A3%EF%BC%88Alport_Syndrome_Heritable_Thoracic_Aortic_Disease%EF%BC%89\" >[\uff13_COL4A5]\u3000\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4, \u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\uff08Alport Syndrome, Heritable Thoracic Aortic Disease\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\/xq22-3-deletion-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\/c9a45b79384de9921600d93060583bda-1024x20.png\" alt=\"Xq22.3\u3000\" class=\"wp-image-90575\"\/><\/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>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">CLDN2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u81b5\u708e<\/td><td class=\"has-text-align-center\" data-align=\"center\">Pancreatitis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">PRPS1<\/td><td class=\"has-text-align-center\" data-align=\"center\">PRPS1\u6b20\u640d\u75c7\u3001Charcot-Marie-Tooth\uff08CMT\uff09\u907a\u4f1d\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u96e3\u8074\u3001PRPS1\u904e\u5270\u6d3b\u6027\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Phosphoribosylpyrophosphate Synthetase Deficiency , Charcot-Marie-Tooth Hereditary Neuropathy Overview, Genetic Hearing Loss, and Phosphoribosylpyrophosphate Synthetase Superactivity<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">COL4A5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4, \u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Alport Syndrome, Heritable Thoracic Aortic Disease<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"925\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromox-MeGbDOXAeKbUEBBTJUAAASHX.png\" alt=\"chromoX\n\" class=\"wp-image-90588\"\/><\/figure>\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%91_CLDN2%E3%80%80%E8%86%B5%E7%82%8E%EF%BC%88Pancreatitis%EF%BC%89\"><\/span>[\uff11_CLDN2]\u3000\u81b5\u708e\uff08Pancreatitis\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\/c9a45b79384de9921600d93060583bda-1024x20.png\" alt=\"Xq22.3\u3000\" class=\"wp-image-90575\"\/><\/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\/CLDN2-hgtIdeo_genome_3f44f5_dafee0-1024x20.png\" alt=\"CLDN2\" class=\"wp-image-90584\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u81b5\u708e\u306f\u3001\u81b5\u81d3\u306b\u708e\u75c7\u304c\u751f\u3058\u308b\u75be\u60a3\u3092\u6307\u3057\u307e\u3059\u3002\u6025\u6027\u81b5\u708e\u306f\u7a81\u7136\u767a\u75c7\u3057\u3001\u901a\u5e386\u304b\u6708\u672a\u6e80\u306e\u77ed\u671f\u9593\u3067\u53ce\u675f\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u6025\u6027\u81b5\u708e\u304c\u518d\u767a\u3057\uff08\u518d\u767a\u6027\u6025\u6027\u81b5\u708e; RAP\uff09\u3001\u3055\u3089\u306b\u306f\u6162\u6027\u81b5\u708e\uff08CP\uff09\u3078\u3068\u9032\u884c\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u75c7\u72b6\u3084\u9032\u884c\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLDN2\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u81b5\u708e\u306f\u3001\u7279\u306bRAP\u304b\u3089CP\u3078\u306e\u9032\u884c\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u6162\u6027\u81b5\u708e\u306e\u60a3\u8005\u306e\u7d0437%\u306f\u3001X\u9023\u9396\u6027\u306eCLDN2\u907a\u4f1d\u5b50\u306e\u75c5\u539f\u6027\u5909\u7570\u3092\u6709\u3057\u3066\u304a\u308a\u3001\u30a2\u30eb\u30b3\u30fc\u30eb\u6442\u53d6\u304c\u52a0\u308f\u308b\u3068\u30ea\u30b9\u30af\u304c\u8457\u3057\u304f\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81b5\u708e\u306f\u3001\u81b5\u81d3\u306e\u6025\u6027\u767a\u4f5c\u306b\u3088\u308a\u5178\u578b\u7684\u306a\u4e0a\u8179\u90e8\u75db\u3092\u4f34\u3044\u3001\u8840\u4e2d\u30a2\u30df\u30e9\u30fc\u30bc\u3084\u30ea\u30d1\u30fc\u30bc\u306e\u8457\u3057\u3044\u4e0a\u6607\u3001\u307e\u305f\u306f\u753b\u50cf\u691c\u67fb\u3067\u81b5\u81d3\u306e\u6d6e\u816b\u3084\u8102\u80aa\u7dda\u7dad\u5316\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002\u75c7\u72b6\u306f\u8efd\u5ea6\u306a\u8179\u75db\u304b\u3089\u591a\u81d3\u5668\u4e0d\u5168\u3092\u4f34\u3046\u91cd\u75c7\u4f8b\uff08\u91cd\u75c7\u6025\u6027\u81b5\u708e; SAP\uff09\u307e\u3067\u5e45\u5e83\u304f\u3001\u5165\u9662\u3084\u96c6\u4e2d\u6cbb\u7642\u3092\u8981\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002CP\u306f\u81b5\u81d3\u306e\u7dda\u7dad\u5316\u3084\u840e\u7e2e\u3001\u75db\u307f\u3001\u7ba1\u306e\u5909\u5f62\u3001\u77f3\u7070\u5316\u3001\u5916\u5206\u6ccc\u304a\u3088\u3073\u5185\u5206\u6ccc\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31074189_s.jpg\" alt=\"\u3084\u306b\u3055\u3051\n\" class=\"wp-image-90578\"\/><\/figure>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u81b5\u708e\u306e\u30ea\u30b9\u30af\u8981\u56e0\u304a\u3088\u3073\u539f\u56e0\u3068\u3057\u3066\u306f\u3001TIGAR-O\uff08\u6bd2\u6027-\u4ee3\u8b1d\u56e0\u5b50\u3001\u7279\u767a\u6027\u3001\u907a\u4f1d\u7684\u8981\u56e0\u3001\u81ea\u5df1\u514d\u75ab\u81b5\u708e\u3001\u53cd\u5fa9\u6027\u6025\u6027\u81b5\u708e\u3001\u7ba1\u9589\u585e\uff09\u3068\u3044\u3046\u982d\u5b57\u8a9e\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8981\u56e0\u304c\u8907\u6570\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u81b5\u708e\u306e\u9032\u884c\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002CLDN2\u907a\u4f1d\u5b50\u5909\u7570\u306f\u907a\u4f1d\u7684\u8981\u56e0\u306e\u4e00\u4f8b\u3067\u3001\u7279\u306b\u30a2\u30eb\u30b3\u30fc\u30eb\u3084\u55ab\u7159\u3068\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u75be\u60a3\u306e\u60aa\u5316\u3092\u62db\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLDN2\u95a2\u9023\u81b5\u708e\u306b\u304a\u3051\u308b\u4e88\u9632\u7b56\u306f\u9650\u5b9a\u7684\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5bfe\u7b56\u304c\u6709\u7528\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f4e\u8102\u80aa\u98df\u3084\u5c11\u91cf\u306e\u983b\u56de\u98df\u306b\u3088\u308a\u81b5\u81d3\u3078\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b\u3059\u308b\u307b\u304b\u3001\u9069\u5207\u306a\u6c34\u5206\u88dc\u7d66\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u55ab\u7159\u3084\u98f2\u9152\u306e\u4e2d\u6b62\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7279\u306bCLDN2\u9ad8\u30ea\u30b9\u30af\u5909\u7570\u3092\u6301\u3064\u7537\u6027\u3084\u3001\u5973\u6027\u30672\u3064\u306e\u9ad8\u30ea\u30b9\u30af\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u306f\u3001\u98f2\u9152\u3092\u901f\u3084\u304b\u306b\u4e2d\u6b62\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u6297\u9178\u5316\u7642\u6cd5\u3084\u9069\u5ea6\u306a\u904b\u52d5\u3001\u30e8\u30ac\u306a\u3069\u306e\u30ea\u30e9\u30af\u30bc\u30fc\u30b7\u30e7\u30f3\u3082\u3001\u81b5\u708e\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" 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\/25060112_s.jpg\" alt=\"\u306e\u307f\u305f\u304a\u308c\u305f\" class=\"wp-image-90581\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6162\u6027\u81b5\u708e\u3067\u306f\u3001\u5916\u5206\u6ccc\u6a5f\u80fd\u4e0d\u5168\uff08EPI\uff09\u304c\u767a\u751f\u3057\u3001\u5341\u5206\u306a\u6d88\u5316\u9175\u7d20\u304c\u4f9b\u7d66\u3055\u308c\u305a\u6804\u990a\u4e0d\u826f\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A\u3001D\u3001E\u3001K\uff09\u306e\u6b20\u4e4f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002EPI\u306b\u306f\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e00\u65b9\u3001\u5185\u5206\u6ccc\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u304c\u6e1b\u5c11\u3057\u3001\u7cd6\u5c3f\u75c5\uff08\u30bf\u30a4\u30d73c DM\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75db\u307f\u306f\u6162\u6027\u81b5\u708e\u306b\u304a\u3051\u308b\u4e3b\u306a\u75c7\u72b6\u3067\u3042\u308a\u3001\u75c5\u614b\u306e\u9032\u884c\u306b\u4f34\u3044\u6301\u7d9a\u7684\u306a\u795e\u7d4c\u969c\u5bb3\u6027\u75bc\u75db\u306b\u79fb\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9032\u884c\u6027\u306e\u708e\u75c7\u3084\u7dda\u7dad\u5316\u306b\u3088\u308b\u81b5\u81d3\u306e\u640d\u50b7\u306f\u3001\u81b5\u7ba1\u817a\u764c\u3084\u795e\u7d4c\u5185\u5206\u6ccc\u816b\u760d\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u5bb6\u65cf\u6027\u81b5\u708e\u306e\u60a3\u8005\u3067\u306f\u3001\u81b5\u81d3\u304c\u3093\u306e\u767a\u75c7\u5e74\u9f62\u304c\u4e00\u822c\u7684\u306a\u30b1\u30fc\u30b9\u3088\u308a20\u201330\u5e74\u65e9\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u55ab\u7159\u3084\u98f2\u9152\u304c\u3053\u308c\u3089\u306e\u30ea\u30b9\u30af\u3092\u3055\u3089\u306b\u5897\u5927\u3055\u305b\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u7fd2\u6163\u3092\u6301\u3064\u60a3\u8005\u306b\u306f\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u81b5\u708e\u30a8\u30d4\u30bd\u30fc\u30c9\u306e\u767a\u751f\u3084\u9032\u884c\u3092\u9632\u3050\u305f\u3081\u306b\u306f\u3001\u8eab\u4f53\u7684\u304a\u3088\u3073\u7cbe\u795e\u7684\u30b9\u30c8\u30ec\u30b9\u306e\u8efd\u6e1b\u304c\u91cd\u8981\u3067\u3059\u3002\u9069\u5207\u306a\u751f\u6d3b\u7fd2\u6163\u3068\u65e9\u671f\u306e\u533b\u7642\u4ecb\u5165\u306b\u3088\u308a\u3001\u75be\u60a3\u306e\u7ba1\u7406\u3068\u4e88\u5f8c\u6539\u5584\u304c\u53ef\u80fd\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\/xp11-23-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.23 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.23\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002...<\/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_PRPS1%E3%80%80PRPS1%E6%AC%A0%E6%90%8D%E7%97%87%E3%80%81Charcot-Marie-Tooth%EF%BC%88CMT%EF%BC%89%E9%81%BA%E4%BC%9D%E6%80%A7%E7%A5%9E%E7%B5%8C%E9%9A%9C%E5%AE%B3%E3%80%81%E9%81%BA%E4%BC%9D%E6%80%A7%E9%9B%A3%E8%81%B4%E3%80%81PRPS1%E9%81%8E%E5%89%B0%E6%B4%BB%E6%80%A7%E7%97%87%EF%BC%88Phosphoribosylpyrophosphate_Synthetase_Deficiency_Charcot-Marie-Tooth_Hereditary_Neuropathy_Overview_Genetic_Hearing_Loss_and_Phosphoribosylpyrophosphate_Synthetase_Superactivity%EF%BC%89\"><\/span>[\uff12_PRPS1]\u3000PRPS1\u6b20\u640d\u75c7\u3001Charcot-Marie-Tooth\uff08CMT\uff09\u907a\u4f1d\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u96e3\u8074\u3001PRPS1\u904e\u5270\u6d3b\u6027\u75c7\uff08Phosphoribosylpyrophosphate Synthetase Deficiency , Charcot-Marie-Tooth Hereditary Neuropathy Overview, Genetic Hearing Loss, and Phosphoribosylpyrophosphate Synthetase Superactivity\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\/c9a45b79384de9921600d93060583bda-1024x20.png\" alt=\"Xq22.3\u3000\" class=\"wp-image-90575\"\/><\/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\/PRPS1-hgtIdeo_genome_3f5078_dafff0-1024x20.png\" alt=\"PRPS1 \" class=\"wp-image-90593\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PRPS1\u306b\u95a2\u3059\u308b\u4e3b\u306a\u75be\u60a3\u306b\u306f\u3001PRPS1\u6b20\u640d\u75c7\u3001Charcot-Marie-Tooth\uff08CMT\uff09\u907a\u4f1d\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u907a\u4f1d\u6027\u96e3\u8074\u3001PRPS1\u904e\u5270\u6d3b\u6027\u75c7\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u7279\u5fb4\u3068\u7ba1\u7406\u306b\u3064\u3044\u3066\u9806\u3092\u8ffd\u3063\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>PRPS1\u6b20\u640d\u75c7\u306f\u3001X\u67d3\u8272\u4f53\u306b\u3042\u308bPRPS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3001\u4ee5\u524d\u306fArts\u75c7\u5019\u7fa4\u3001Charcot-Marie-Tooth\u795e\u7d4c\u969c\u5bb3\u30bf\u30a4\u30d75\uff08CMTX5\uff09\u3001\u304a\u3088\u3073X\u9023\u9396\u6027\u975e\u75c7\u5019\u6027\u611f\u97f3\u6027\u96e3\u8074\uff08DFNX1\uff09\u3068\u3044\u3046\u5225\u3005\u306e\u75be\u60a3\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u73fe\u5728\u3067\u306f\u3001\u3053\u308c\u3089\u306f1\u3064\u306e\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u542b\u307e\u308c\u308b\u3082\u306e\u3068\u3055\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\/22887021_s.jpg\" alt=\"flute\" class=\"wp-image-90596\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PRPS1\u6b20\u640d\u75c7\u306e\u75c7\u72b6\u306f\u91cd\u75c7\u304b\u3089\u8efd\u75c7\u307e\u3067\u5e45\u5e83\u304f\u3001\u91cd\u75c7\u306e\u5834\u5408\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u8996\u795e\u7d4c\u840e\u7e2e\u306a\u3069\u306e\u773c\u306e\u554f\u984c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001\u8efd\u75c7\u3067\u306f\u3001\u8efd\u5ea6\u306e\u96e3\u8074\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u6b69\u884c\u6642\u306e\u3075\u3089\u3064\u304d\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u8a8d\u77e5\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7537\u6027\u304c\u4e3b\u306b\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u3044\u4e00\u65b9\u3001\u5973\u6027\u306f\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u306e\u5f62\u3067\u8efd\u3044\u75c7\u72b6\u3084\u90e8\u5206\u7684\u306a\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3084\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u306f\u6839\u6cbb\u7684\u306a\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u96e3\u8074\u306b\u306f\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u304c\u3001\u8996\u899a\u969c\u5bb3\u306b\u306f\u4f4e\u8996\u529b\u88dc\u52a9\u6a5f\u5668\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u795e\u7d4c\u969c\u5bb3\u306b\u306f\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u304c\u5f79\u7acb\u3061\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u3001\u591a\u8077\u7a2e\u306e\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>Charcot-Marie-Tooth\uff08CMT\uff09\u907a\u4f1d\u6027\u795e\u7d4c\u969c\u5bb3\u306f\u3001\u904b\u52d5\u795e\u7d4c\u3068\u611f\u899a\u795e\u7d4c\u306e\u4e21\u65b9\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3001\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u624b\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u840e\u7e2e\u3001\u6b69\u884c\u56f0\u96e3\u3001\u9ad8\u30a2\u30fc\u30c1\u8db3\uff08\u30da\u30b9\u30ab\u30d0\u30b9\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u611f\u899a\u55aa\u5931\u304c\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u4e3b\u306b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u3067\u69cb\u6210\u3055\u308c\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u77ef\u6b63\u5668\u5177\u3084\u624b\u8853\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\/12\/4329092_s.jpg\" alt=\"\u598a\u5a66\u3055\u3093\" class=\"wp-image-86830\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u6027\u96e3\u8074\u306f\u3001\u611f\u97f3\u6027\u96e3\u8074\uff08\u5185\u8033\u3084\u8074\u899a\u795e\u7d4c\u306e\u6a5f\u80fd\u969c\u5bb3\uff09\u3092\u4e2d\u5fc3\u3068\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u96e3\u8074\u306e\u7a0b\u5ea6\u3084\u9032\u884c\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u9069\u5207\u306a\u652f\u63f4\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5927\u5e45\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u4eba\u5de5\u5185\u8033\u3084\u88dc\u8074\u5668\u306e\u5229\u7528\u306f\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3042\u308a\u3001\u65e9\u671f\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>PRPS1\u904e\u5270\u6d3b\u6027\u75c7\u306f\u3001\u4f53\u5185\u3067\u5c3f\u9178\u304c\u904e\u5270\u306b\u751f\u6210\u3055\u308c\u308b\u3053\u3068\u3092\u7279\u5fb4\u3068\u3057\u3001\u9ad8\u5c3f\u9178\u8840\u75c7\u3084\u5c3f\u9178\u7d50\u77f3\u3001\u75db\u98a8\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8efd\u75c7\u578b\u3067\u306f\u9752\u5e74\u671f\u4ee5\u964d\u306b\u521d\u3081\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u91cd\u75c7\u578b\u3067\u306f\u5e7c\u5c11\u671f\u304b\u3089\u611f\u97f3\u6027\u96e3\u8074\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf\u3068\u3044\u3063\u305f\u591a\u5f69\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u306f\u3001\u5c3f\u9178\u306e\u7523\u751f\u3092\u6291\u3048\u308b\u85ac\u7269\uff08\u30a2\u30ed\u30d7\u30ea\u30ce\u30fc\u30eb\u3084\u30d5\u30a7\u30d6\u30ad\u30bd\u30b9\u30bf\u30c3\u30c8\uff09\u304c\u4f7f\u308f\u308c\u3001\u5341\u5206\u306a\u6c34\u5206\u6442\u53d6\u3068\u5c3f\u30a2\u30eb\u30ab\u30ea\u5316\u306b\u3088\u308b\u4e88\u9632\u7b56\u3082\u4f75\u7528\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u6cbb\u7642\u6cd5\u306f\u795e\u7d4c\u75c7\u72b6\u3084\u96e3\u8074\u306b\u306f\u76f4\u63a5\u52b9\u679c\u304c\u306a\u3044\u305f\u3081\u3001\u5225\u9014\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u306fX\u9023\u9396\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u5bb6\u65cf\u5185\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u8a3a\u65ad\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u8a08\u753b\u3092\u7acb\u3066\u308b\u969b\u306e\u53c2\u8003\u306b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002PRPS1\u95a2\u9023\u75be\u60a3\u306e\u7406\u89e3\u3068\u7ba1\u7406\u306f\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u60c5\u5831\u3068\u652f\u63f4\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\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=\"%EF%BC%93_COL4A5%E3%80%80%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4_%E9%81%BA%E4%BC%9D%E6%80%A7%E8%83%B8%E9%83%A8%E5%A4%A7%E5%8B%95%E8%84%88%E7%96%BE%E6%82%A3%EF%BC%88Alport_Syndrome_Heritable_Thoracic_Aortic_Disease%EF%BC%89\"><\/span>[\uff13_COL4A5]\u3000\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4, \u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\uff08Alport Syndrome, Heritable Thoracic Aortic Disease\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\/c9a45b79384de9921600d93060583bda-1024x20.png\" alt=\"Xq22.3\u3000\" class=\"wp-image-90575\"\/><\/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\/COL4A5-hgtIdeo_genome_3f67fd_db0170-1024x20.png\" alt=\"COL4A5 \" class=\"wp-image-90601\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08Alport Syndrome\uff09\u3068\u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\uff08Heritable Thoracic Aortic Disease, HTAD\uff09\u306f\u3001\u305d\u308c\u305e\u308cCOL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u3001\u8033\u3001\u76ee\u306b\u4e3b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u75c7\u72b6\u306e\u7bc4\u56f2\u306f\u5e83\u304f\u3001\u9032\u884c\u6027\u814e\u75be\u60a3\u304b\u3089\u5b64\u7acb\u6027\u8840\u5c3f\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u7d042\/3\u306fX\u9023\u9396\u578b\uff08XLAS\uff09\u3001\u7d0415%\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\uff08ARAS\uff09\u3001\u7d0420%\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u578b\uff08ADAS\uff09\u3068\u3057\u3066\u907a\u4f1d\u3057\u307e\u3059\u3002\u9032\u884c\u3059\u308b\u5834\u5408\u3001\u521d\u671f\u306e\u9855\u5fae\u93e1\u7684\u8840\u5c3f\u304b\u3089\u30bf\u30f3\u30d1\u30af\u5c3f\u3001\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u6700\u7d42\u7684\u306b\u306f\u672b\u671f\u814e\u4e0d\u5168\uff08ESRD\uff09\u306b\u81f3\u308a\u307e\u3059\u3002\u7279\u306bXLAS\u306e\u7537\u6027\u3068ARAS\u306e\u7537\u5973\u306f\u6cbb\u7642\u3092\u3057\u306a\u3051\u308c\u3070\u5168\u4f8b\u3067ESRD\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u97f3\u6027\u96e3\u8074\uff08SNHL\uff09\u306f\u5e7c\u5c11\u671f\u5f8c\u671f\u304b\u3089\u9752\u5e74\u671f\u521d\u671f\u306b\u304b\u3051\u3066\u9032\u884c\u3057\u3001\u76ee\u306e\u75c7\u72b6\u3068\u3057\u3066\u306f\u524d\u90e8\u6c34\u6676\u4f53\u5186\u9310\uff08\u8a3a\u65ad\u7684\u4fa1\u5024\u304c\u9ad8\u3044\u7279\u5fb4\uff09\u3001\u9ec4\u6591\u75c7\uff08\u9ec4\u767d\u8272\u306e\u7c92\u72b6\u306e\u5909\u5316\uff09\u3001\u89d2\u819c\u5185\u76ae\u5c0f\u80de\u3001\u89d2\u819c\u3073\u3089\u3093\u306e\u518d\u767a\u304c\u307f\u3089\u308c\u307e\u3059\u3002ADAS\u3067\u306f\u814e\u4e0d\u5168\u3084\u96e3\u8074\u306e\u767a\u75c7\u304c\u9045\u304f\u3001\u76ee\u306e\u75c7\u72b6\u306f\u307e\u308c\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\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/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\u3001COL4A3\u3001COL4A4\u3001\u307e\u305f\u306fCOL4A5\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u7279\u5b9a\u306b\u57fa\u3065\u304d\u884c\u3044\u307e\u3059\u3002\u6cbb\u7642\u306b\u306f\u3001\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u5909\u63db\u9175\u7d20\u963b\u5bb3\u85ac\uff08ACE\u963b\u5bb3\u85ac\uff09\u3084\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u53d7\u5bb9\u4f53\u62ee\u6297\u85ac\uff08ARB\uff09\u306b\u3088\u308b\u814e\u4e0d\u5168\u9032\u884c\u306e\u9045\u5ef6\u3001\u901a\u5e38\u306e\u9ad8\u8840\u5727\u6cbb\u7642\u3001\u814e\u79fb\u690d\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u96e3\u8074\u3084\u767d\u5185\u969c\u306b\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u89d2\u819c\u3073\u3089\u3093\u304c\u518d\u767a\u3059\u308b\u5834\u5408\u306f\u76ee\u3092\u4fdd\u8b77\u3057\u3001\u9a12\u97f3\u74b0\u5883\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5f62\u5f0f\u306f3\u7a2e\u985e\u3067\u3001X\u9023\u9396\u578b\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u578b\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306f\u3001\u5bb6\u65cf\u5185\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306e\u578b\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u30ea\u30b9\u30af\u8a55\u4fa1\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\uff08HTAD\uff09\u306f\u80f8\u90e8\u5927\u52d5\u8108\u306e\u5c40\u6240\u7684\u306a\u62e1\u5f35\uff08\u52d5\u8108\u7624\uff09\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u3001\u3057\u3070\u3057\u3070\u5927\u52d5\u8108\u57fa\u90e8\u3084\u4e0a\u884c\u5927\u52d5\u8108\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u65e9\u671f\u8a3a\u65ad\u3068\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb\u304c\u91cd\u8981\u3067\u3001\u7121\u75c7\u5019\u6027\u52d5\u8108\u7624\u3092\u7279\u5b9a\u3057\u3001\u305d\u306e\u6210\u9577\u3092\u76e3\u8996\u3059\u308b\u3053\u3068\u304c\u6cbb\u7642\u306e\u57fa\u672c\u3068\u306a\u308a\u307e\u3059\u3002\u753b\u50cf\u691c\u67fb\u306b\u306f\u5fc3\u30a8\u30b3\u30fc\u3001CT\u3001MRI\u304c\u7528\u3044\u3089\u308c\u3001\u52d5\u8108\u7624\u306e\u9032\u884c\u901f\u5ea6\u3084\u5bb6\u65cf\u6b74\u306b\u57fa\u3065\u304d\u691c\u67fb\u983b\u5ea6\u304c\u8abf\u6574\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-22-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.22 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u77ed\u8155\u306e\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u3088\u308b\u5e0c\u5c11\u306aX\u9023\u9396\u6027\u75be\u60a3\u3067\u3059\u3002\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u5ef6\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u306a\u3069\u3001\u591a\u69d8\u306a\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c...<\/div>\n      <\/div>\n    <\/a>\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\/1381756_s.jpg\" alt=\"baby heart\" class=\"wp-image-90607\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u85ac\u7269\u7642\u6cd5\u3068\u3057\u3066\u3001\u03b2\u906e\u65ad\u85ac\u3084\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u53d7\u5bb9\u4f53\u62ee\u6297\u85ac\u304c\u7528\u3044\u3089\u308c\u3001\u7279\u306b\u30de\u30eb\u30d5\u30a1\u30f3\u75c7\u5019\u7fa4\u3084\u95a2\u9023\u75be\u60a3\u306b\u304a\u3044\u3066\u52d5\u8108\u57fa\u90e8\u306e\u62e1\u5f35\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u624b\u8853\u306f\u52d5\u8108\u7624\u306e\u76f4\u5f84\u304c\u4e00\u5b9a\u306e\u95be\u5024\uff08\u901a\u5e384.5 cm\u4ee5\u4e0a\uff09\u306b\u9054\u3057\u305f\u5834\u5408\u3001\u307e\u305f\u306f\u6025\u901f\u306a\u62e1\u5927\u3084\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306b\u4e88\u9632\u7684\u306b\u5b9f\u65bd\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>HTAD\u306f\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u3082\u9ad8\u304f\u3001\u598a\u5a20\u4e2d\u304a\u3088\u3073\u7523\u5f8c\u306e\u5927\u52d5\u8108\u89e3\u96e2\u306e\u30ea\u30b9\u30af\u304c\u7b2c\u4e09\u671f\u598a\u5a20\u671f\u304b\u3089\u7523\u5f8c12\u9031\u9593\u307e\u3067\u9ad8\u307e\u308a\u307e\u3059\u3002\u598a\u5a20\u3092\u8a08\u753b\u3059\u308b\u5834\u5408\u3001\u4e8b\u524d\u306b\u5fc3\u8840\u7ba1\u5c02\u9580\u533b\u3068\u9ad8\u30ea\u30b9\u30af\u598a\u5a20\u306e\u5c02\u9580\u533b\u304c\u95a2\u4e0e\u3057\u3001\u9069\u5207\u306a\u753b\u50cf\u8a3a\u65ad\u3068\u624b\u8853\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u3092\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068HTAD\u306e\u3044\u305a\u308c\u306e\u5834\u5408\u3082\u3001\u65e9\u671f\u8a3a\u65ad\u3001\u5b9a\u671f\u7684\u306a\u533b\u7642\u7ba1\u7406\u3001\u5bb6\u65cf\u6b74\u3092\u8003\u616e\u3057\u305f\u9069\u5207\u306a\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\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<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\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/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=\"%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\/NBK1120\/\">Milewicz DM, Cecchi AC. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [Updated 2023 May 4]. 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\/NBK1120\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1207\/\">Kashtan CE. Alport Syndrome. 2001 Aug 28 [Updated 2019 Feb 21]. 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\/NBK1207\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1973\/\">de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Superactivity. 2008 Sep 23 [Updated 2022 Feb 17]. 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\/NBK1973\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1434\/\">Shearer AE, Hildebrand MS, Odell AM, et al. Genetic Hearing Loss Overview. 1999 Feb 14 [Updated 2023 Sep 28]. 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\/NBK1434\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1358\/\">Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [Updated 2024 Aug 1]. 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\/NBK1358\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK2591\/\">de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Deficiency. 2008 Oct 21 [Updated 2023 Jun 8]. 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\/NBK2591\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK190101\/\">Shelton C, LaRusch J, Whitcomb DC. Pancreatitis Overview. 2014 Mar 13 [Updated 2020 Jul 2]. 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\/NBK190101\/<\/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. 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