{"id":83541,"date":"2024-11-14T14:27:22","date_gmt":"2024-11-14T05:27:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83541"},"modified":"2026-03-04T13:02:57","modified_gmt":"2026-03-04T04:02:57","slug":"digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/","title":{"rendered":"\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3068\u306f\uff1fNIPT\u3067\u691c\u67fb\u53ef\u80fd\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011"},"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><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff12\uff08DiGeorge Syndrome 2\uff09\u306f\u3001\u80ce\u5150\u306e\u767a\u751f\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306b\u8d77\u56e0\u3059\u308b\u7a00\u306a\u75be\u60a3\u3067\u3001\u5fc3\u75be\u60a3\u3001\u514d\u75ab\u4e0d\u5168\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001DGS1\u3068DGS2\u306e\u75c7\u72b6\u3068\u539f\u56e0\u306e\u9055\u3044\u3001\u95a2\u9023\u907a\u4f1d\u5b50\uff08CUGBP2\u3001GATA3\u3001NEBL\u3001ZMYND11\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u8aac\u660e\u3057\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u91cd\u8981\u6027\u3092\u8003\u5bdf\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%E7%96%BE%E6%82%A3%E3%81%AB%E6%B7%B1%E3%81%8F%E9%96%A2%E4%B8%8E%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E3%81%82%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u75be\u60a3\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u907a\u4f1d\u5b50<\/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\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%91_CUGBP2%E3%80%80%E7%99%BA%E9%81%94%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8797%EF%BC%88Developmental_and_epileptic_encephalopathy_97_DEE97%EF%BC%89\" >[\uff11_CUGBP2]\u3000\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c797\uff08Developmental and epileptic encephalopathy 97 (DEE97)\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\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%92_GATA3%E3%80%80%E5%89%AF%E7%94%B2%E7%8A%B6%E8%85%BA%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B%E7%97%87%E3%83%BB%E6%84%9F%E9%9F%B3%E9%9B%A3%E8%81%B4%E3%83%BB%E8%85%8E%E7%96%BE%E6%82%A3%EF%BC%88Hypoparathyroidism_sensorineural_deafness_and_renal_disease_HDR%EF%BC%89\" >[\uff12_GATA3]\u3000\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u30fb\u611f\u97f3\u96e3\u8074\u30fb\u814e\u75be\u60a3\uff08Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)\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\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%93_NEBL%E3%80%80%E5%BF%83%E7%AD%8B%E7%97%87%EF%BC%88Cardiomyopathy%EF%BC%89\" >[\uff13_NEBL]\u3000\u5fc3\u7b4b\u75c7\uff08Cardiomyopathy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%94_ZMYND11%E3%80%80%E8%A8%80%E8%AA%9E%E9%81%85%E6%BB%9E%E3%81%A8%E8%A1%8C%E5%8B%95%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E5%84%AA%E6%80%A7%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B330%EF%BC%88Intellectual_developmental_disorder_autosomal_dominant_30_with_speech_delay_and_behavioral_abnormalities_MRD30%EF%BC%89\" >[\uff14_ZMYND11]\u3000\u8a00\u8a9e\u9045\u6ede\u3068\u884c\u52d5\u7570\u5e38\u3092\u4f34\u3046\u5e38\u67d3\u8272\u4f53\u512a\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb330\uff08Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities (MRD30)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%95_OPTN%E3%80%80%E7%AD%8B%E8%90%8E%E7%B8%AE%E6%80%A7%E5%81%B4%E7%B4%A2%E7%A1%AC%E5%8C%96%E7%97%8712%E5%9E%8B%EF%BC%88Amyotrophic_Lateral_Sclerosis_12_ALS12%EF%BC%89\" >[\uff15_OPTN]\u3000\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c712\u578b\uff08Amyotrophic Lateral Sclerosis 12 (ALS12)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%EF%BC%96_PHYH%E3%80%80%E3%83%AC%E3%83%95%E3%82%B5%E3%83%A0%E7%97%85%EF%BC%88Refsum_disease%EF%BC%89\" >[\uff16_PHYH]\u3000\u30ec\u30d5\u30b5\u30e0\u75c5\uff08Refsum disease\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/#%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=\"%E5%8F%A4%E5%85%B8%E7%9A%84%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88DSG1%EF%BC%89%E3%81%A8%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A42%EF%BC%88DSG2%EF%BC%89\"><\/span>\u53e4\u5178\u7684\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff08DSG1\uff09\u3068\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa42\uff08DSG2\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff08DiGeorge Syndrome\u3001DGS\uff09\u306f\u3001\u80ce\u5150\u306e\u767a\u751f\u6bb5\u968e\u3067\u7b2c\u4e09\u304a\u3088\u3073\u7b2c\u56db\u54bd\u982d\u56a2\u3068\u547c\u3070\u308c\u308b\u80da\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002\u3053\u306e\u7570\u5e38\u306f\u3001\u80f8\u817a\u3084\u526f\u7532\u72b6\u817a\u3068\u3044\u3063\u305f\u91cd\u8981\u306a\u81d3\u5668\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u514d\u75ab\u4e0d\u5168\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3059\u308b\u72b6\u614b\uff09\u3001\u5fc3\u81d3\u3084\u9854\u9762\u306e\u69cb\u9020\u7570\u5e38\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3001DGS\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u767a\u9054\u9045\u5ef6\u300d\u306b\u306f\u3001\u8a00\u8a9e\u306e\u767a\u9054\u306e\u9045\u308c\u3084\u904b\u52d5\u30b9\u30ad\u30eb\u306e\u672a\u719f\u3055\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u9045\u308c\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DGS\u306e\u5927\u90e8\u5206\uff0890%\u4ee5\u4e0a\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e22q11.2\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306f\u4e00\u822c\u306bDGS1\u3068\u547c\u3070\u308c\u3001\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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\/bcb2de9bfbdfaa0fb2617623302f6110-1024x20.png\" alt=\"22q11.21\u3000\" class=\"wp-image-91317\"\/><\/figure><\/div>\n\n\n<p>\u4e00\u65b9\u3067\u3001DGS\u306b\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3068\u3057\u3066\u300110\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0810p\uff09\u306e\u672b\u7aef\u90e8\u5206\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308bDGS2\u304c\u3042\u308a\u307e\u3059\u3002DGS2\u306f\u65b0\u751f\u5150\u7d0420\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001DGS1\u3088\u308a\u308250\u500d\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/figure><\/div>\n\n\n<div style=\"height:47px\" 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.jpg\" alt=\"\u304a\u3066\u3066\u3092\u63e1\u308d\u3046\" class=\"wp-image-88556\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DGS2\u306fDGS1\u3068\u540c\u69d8\u306b\u3001\u9854\u9762\u7570\u5e38\u3001\u5fc3\u75be\u60a3\u3001\u514d\u75ab\u4e0d\u5168\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u306e\u7279\u5fb4\u3092\u6301\u3064\u4e00\u65b9\u3067\u3001\u3044\u304f\u3064\u304b\u306e\u7570\u306a\u308b\u75c7\u72b6\u3084\u539f\u56e0\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5206\u5b50\u7814\u7a76\u306b\u3088\u308c\u3070\u3001DGS2\u306f10p\u9818\u57df\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u3053\u306e\u9818\u57df\u306b\u306f2\u3064\u306e\u91cd\u8981\u306a\u90e8\u5206\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>1\u3064\u76ee\u306f10p13-14\u306b\u4f4d\u7f6e\u3059\u308b\u30b2\u30ce\u30e0\u9818\u57df\u3067\u3001CUGBP2\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u307e\u3059\u3002\u4e3b\u306b\u5fc3\u75be\u60a3\u3068T\u7d30\u80de\u6b20\u4e4f\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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\/10p13p14-hgtIdeo_genome_164b1c_3b210-1024x20.png\" alt=\"10p13p14 \" class=\"wp-image-91303\"\/><\/figure><\/div>\n\n\n<p>2\u3064\u76ee\u306f10p14-15\u306b\u4f4d\u7f6e\u3057\u3001\u30c6\u30ed\u30e1\u30a2\u306b\u8fd1\u3044\u9818\u57df\u3067\u3001GATA3\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u814e\u5f62\u6210\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u300cHDR\u75c7\u5019\u7fa4\uff08Hypoparathyroidism, Deafness, and Renal dysplasia\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u30fb\u96e3\u8074\u30fb\u814e\u5f62\u6210\u7570\u5e38\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\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\/8484ea664f316e984cfbf2a891245b68-1024x20.png\" alt=\"10p14p15\u3000\" class=\"wp-image-91308\"\/><\/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\/ae5a931776edf8e7880d21a91b2f2981-1024x20.png\" alt=\"GATA3\" class=\"wp-image-91311\"\/><\/figure><\/div>\n\n\n<p>DGS1\u3068DGS2\u306f\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u6df7\u540c\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u539f\u56e0\u3084\u95a2\u9023\u3059\u308b\u67d3\u8272\u4f53\u306e\u7570\u5e38\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u5225\u306e\u75be\u60a3\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3084\u6cbb\u7642\u65b9\u6cd5\u304c\u7570\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002DGS2\u306f\u7279\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u3068\u5c02\u9580\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u75c7\u72b6\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u60a3\u8005\u3078\u306e\u9069\u5207\u306a\u652f\u63f4\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/10p11-21-p12-31-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">10p11.21-p12.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">10p11.21-p12.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6...<\/div>\n      <\/div>\n    <\/a>\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\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AB%E6%B7%B1%E3%81%8F%E9%96%A2%E4%B8%8E%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E3%81%82%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u75be\u60a3\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\u81e8\u5e8a\u7684\u7279\u5fb4<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated clinical description<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">CUGBP2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c797<\/td><td class=\"has-text-align-center\" data-align=\"center\">Developmental and epileptic encephalopathy 97 (DEE97)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">GATA3<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u30fb\u611f\u97f3\u96e3\u8074\u30fb\u814e\u75be\u60a3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">NEBL<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5fc3\u7b4b\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Cardiomyopathy<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">ZMYND11<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u8a00\u8a9e\u9045\u6ede\u3068\u884c\u52d5\u7570\u5e38\u3092\u4f34\u3046\u5e38\u67d3\u8272\u4f53\u512a\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb330<\/td><td class=\"has-text-align-center\" data-align=\"center\">Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities (MRD30)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">OPTN<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c712\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Amyotrophic Lateral Sclerosis 12 (ALS12)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff16<\/td><td class=\"has-text-align-center\" data-align=\"center\">PHYH<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ec\u30d5\u30b5\u30e0\u75c5<\/td><td class=\"has-text-align-center\" data-align=\"center\">Refsum 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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"931\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/bf9b7945b0aa40385a6008ba33911c53.png\" alt=\"\" class=\"wp-image-90059\"\/><\/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_CUGBP2%E3%80%80%E7%99%BA%E9%81%94%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8797%EF%BC%88Developmental_and_epileptic_encephalopathy_97_DEE97%EF%BC%89\"><\/span>[\uff11_CUGBP2]\u3000\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c797\uff08Developmental and epileptic encephalopathy 97 (DEE97)\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/325447ee973773bd8fa5a8bd3da731a4-1024x20.png\" alt=\"CUGBP2 aka CELF2\" class=\"wp-image-91343\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c797\uff08Developmental and epileptic encephalopathy 97, DEE97\uff09\u306f\u3001\u907a\u4f1d\u5b50CUGBP2\uff08CELF2\uff09\u306b\u304a\u3051\u308b\u5909\u7570\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u6b63\u5e38\u306a\u767a\u9054\u3092\u793a\u3057\u305f\u5f8c\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u304d\u3063\u304b\u3051\u3068\u3057\u3066\u8a8d\u77e5\u6a5f\u80fd\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u767a\u9054\u9045\u5ef6\u304c\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u95a2\u9023\u3059\u308b\u884c\u52d5\u7279\u6027\u3084\u7b4b\u529b\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CUGBP2\u907a\u4f1d\u5b50\u306f10\u756a\u67d3\u8272\u4f53\u306e10p14\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3001BRUNOL3\u3001CELF2\u3001ETR3\u3001NAPOR\u3068\u3044\u3063\u305f\u5225\u540d\u3067\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001CUGBP Elav\u69d8\u30d5\u30a1\u30df\u30ea\u30fc\u30bf\u30f3\u30d1\u30af\u8cea2\uff08CUGBP Elav-like family member 2\uff09\u3068\u547c\u3070\u308c\u308bRNA\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u904e\u7a0b\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u5177\u4f53\u7684\u306b\u306f\u3001mRNA\uff08\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\uff09\u306e\u9078\u629e\u7684\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u3001\u7ffb\u8a33\u3001\u5b89\u5b9a\u6027\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u30d7\u30ed\u30bb\u30b9\u306f\u3001\u7279\u5b9a\u306e\u7d44\u7e54\u3084\u767a\u751f\u6bb5\u968e\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u9069\u5207\u306b\u8abf\u7bc0\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7279\u5b9a\u306e\u30a8\u30af\u30bd\u30f3\uff08\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\uff09\u306e\u5305\u542b\u3084\u6392\u9664\u3092\u5236\u5fa1\u3059\u308b\u80fd\u529b\u3092\u6301\u3061\u3001\u305d\u306e\u50cd\u304d\u304c\u6b63\u5e38\u3067\u306a\u3044\u5834\u5408\u3001DEE97\u306e\u767a\u75c7\u306b\u5bc4\u4e0e\u3059\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\/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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CELF\u30bf\u30f3\u30d1\u30af\u8cea\uff08CUGBP Elav-like family\uff09\u306f\u3001\u7d30\u80de\u5185\u3067\u6838\u3068\u7d30\u80de\u8cea\u3092\u79fb\u52d5\u3057\u306a\u304c\u3089RNA\u3092\u7d50\u5408\u3059\u308b\u80fd\u529b\u3092\u6301\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u7fa4\u3067\u3059\u3002\u3053\u306e\u30d5\u30a1\u30df\u30ea\u30fc\u306fCELF1\u304b\u3089CELF6\u307e\u3067\u306e6\u7a2e\u985e\u304c\u77e5\u3089\u308c\u3001\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u907a\u4f1d\u5b50\u306b\u30b3\u30fc\u30c9\u3055\u308c\u3066\u3044\u307e\u3059\u3002CELF1\u3068CELF2\u306f\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08CNS\uff09\u3001\u9aa8\u683c\u7b4b\u3001\u5fc3\u81d3\u306a\u3069\u591a\u304f\u306e\u7d44\u7e54\u3067\u5e83\u304f\u767a\u73fe\u3057\u3066\u304a\u308a\u3001\u4e00\u65b9\u3067CELF3\u304b\u3089CELF6\u306f\u7279\u5b9a\u306e\u7d44\u7e54\u306b\u9650\u5b9a\u3055\u308c\u305f\u767a\u73fe\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u307e\u3059\u3002\u7279\u306bCELF2\u306f\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u3084\u5fc3\u81d3\u5f62\u6210\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u308f\u305a\u304b\u306a\u5909\u7570\u3067\u3082\u305d\u306e\u6a5f\u80fd\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE97\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u53d6\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7247\u65b9\u306e\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u30601\u3064\u306e\u5909\u7570\u907a\u4f1d\u5b50\u304c\u75be\u60a3\u306e\u767a\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002Itai\u3089\uff082021\u5e74\uff09\u306e\u7814\u7a76\u3067\u306f\u3001CELF2\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b4\u3064\u306e\u7570\u306a\u308b\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u5909\u7570\u304c\u60a3\u8005\u306e\u7d30\u80de\u5185\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u306a\u5c40\u5728\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u3046\u3057\u305f\u7570\u5e38\u306a\u5c40\u5728\u306b\u3088\u308a\u3001\u7d30\u80de\u5185\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u3001\u7d50\u679c\u7684\u306b\u75be\u60a3\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\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\/24920183_s.jpg\" alt=\"\u624b\u3092\u512a\u3057\u304f\u63e1\u308d\u3046\" class=\"wp-image-90954\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5177\u4f53\u7684\u306a\u75c7\u4f8b\u5831\u544a\u304b\u3089\u306f\u3001DEE97\u306e\u75c7\u72b6\u306e\u591a\u69d8\u6027\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u4e00\u4f8b\u76ee\u306e\u60a3\u8005\u306f\u3001\u751f\u5f8c7.5\u304b\u6708\u307e\u3067\u6b63\u5e38\u306b\u767a\u9054\u3057\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u305d\u306e\u5f8c\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3057\u30013\u6b734\u304b\u6708\u6642\u70b9\u3067\u7b4b\u529b\u4f4e\u4e0b\u304c\u9855\u8457\u306b\u306a\u308a\u3001\u6b69\u884c\u3084\u8a00\u8a9e\u306e\u767a\u9054\u306b\u91cd\u5ea6\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u3002\u4e8c\u4f8b\u76ee\u306e\u60a3\u8005\u306f\u3001\u751f\u5f8c2.5\u304b\u6708\u3067\u773c\u7403\u904b\u52d5\u3084\u7b4b\u53ce\u7e2e\u3092\u4f34\u3046\u767a\u4f5c\u3092\u767a\u75c7\u3057\u3001\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u95a2\u9023\u3059\u308b\u884c\u52d5\u554f\u984c\u304c\u73fe\u308c\u307e\u3057\u305f\u3002\u4e09\u4f8b\u76ee\u306e\u60a3\u8005\u306f\u3001\u751f\u5f8c4\u304b\u6708\u3067\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u30019\u6b73\u6642\u70b9\u3067\u4e8c\u8a9e\u6587\u3092\u8a71\u3059\u80fd\u529b\u3092\u6301\u3064\u3082\u306e\u306e\u3001\u8a00\u8a9e\u767a\u9054\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u3002\u56db\u4f8b\u76ee\u306e\u60a3\u8005\u306f\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u767a\u4f5c\u3092\u7d4c\u9a13\u3057\u3001\u305d\u306e\u5f8c\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3084\u904b\u52d5\u969c\u5bb3\u3092\u793a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u4f8b\u306f\u3001CELF2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304cDEE97\u306e\u767a\u75c7\u306b\u591a\u9762\u7684\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u305d\u306e\u75c5\u614b\u89e3\u660e\u3084\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3059\u3002\u7279\u306b\u3001CELF2\u306e\u5f79\u5272\u3084\u6a5f\u80fd\u306e\u89e3\u660e\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u3053\u306e\u75be\u60a3\u306b\u82e6\u3057\u3080\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3088\u308a\u826f\u3044\u6cbb\u7642\u3084\u30b5\u30dd\u30fc\u30c8\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\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=\"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_GATA3%E3%80%80%E5%89%AF%E7%94%B2%E7%8A%B6%E8%85%BA%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B%E7%97%87%E3%83%BB%E6%84%9F%E9%9F%B3%E9%9B%A3%E8%81%B4%E3%83%BB%E8%85%8E%E7%96%BE%E6%82%A3%EF%BC%88Hypoparathyroidism_sensorineural_deafness_and_renal_disease_HDR%EF%BC%89\"><\/span>[\uff12_GATA3]\u3000\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u30fb\u611f\u97f3\u96e3\u8074\u30fb\u814e\u75be\u60a3\uff08Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/GATA3-hgtIdeo_genome_213414_79d40-1024x20.png\" alt=\"GATA3 \" class=\"wp-image-91374\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>HDR\u75c7\u5019\u7fa4\uff08Hypoparathyroidism, sensorineural Deafness, and Renal disease\uff09\u306f\u300110p14\u3068\u3044\u3046\u67d3\u8272\u4f53\u9818\u57df\u306b\u5b58\u5728\u3059\u308bGATA3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\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\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08Hypoparathyroidism\uff09\u3001\u611f\u97f3\u6027\u96e3\u8074\uff08sensorineural hearing loss\uff09\u3001\u304a\u3088\u3073\u814e\u75be\u60a3\uff08renal disease\uff09\u3068\u3044\u30463\u3064\u306e\u4e3b\u306a\u75c7\u72b6\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3068\u306f\u3001\u526f\u7532\u72b6\u817a\u304c\u5341\u5206\u306a\u91cf\u306e\u30db\u30eb\u30e2\u30f3\u3092\u7523\u751f\u3067\u304d\u305a\u3001\u8840\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3059\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u3053\u306e\u75c7\u72b6\u306f\u3001\u7b4b\u8089\u306e\u75d9\u6523\u3084\u3051\u3044\u308c\u3093\u3001\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\u3068\u3044\u3063\u305f\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u611f\u97f3\u6027\u96e3\u8074\u306f\u5185\u8033\u3084\u8074\u899a\u795e\u7d4c\u306e\u7570\u5e38\u306b\u3088\u308a\u97f3\u3092\u6b63\u3057\u304f\u4f1d\u3048\u308b\u80fd\u529b\u304c\u640d\u306a\u308f\u308c\u308b\u72b6\u614b\u3067\u3001HDR\u75c7\u5019\u7fa4\u3067\u306f\u4e21\u5074\u6027\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u814e\u75be\u60a3\u3067\u306f\u3001\u814e\u306e\u5f62\u6210\u4e0d\u5168\uff08\u814e\u4f4e\u5f62\u6210\uff09\u3001\u814e\u7570\u5f62\u6210\u3001\u5c3f\u8def\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u814e\u4e0d\u5168\u306b\u81f3\u308b\u3053\u3068\u3082\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=\"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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>HDR\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308bGATA3\u907a\u4f1d\u5b50\u306f\u3001\u767a\u751f\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u8ee2\u5199\u56e0\u5b50\u3068\u306f\u3001\u7d30\u80de\u5185\u3067\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3057\u3001\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u3088\u3046\u6307\u793a\u3092\u4e0e\u3048\u308b\u5f79\u5272\u3092\u6301\u3064\u5206\u5b50\u3067\u3059\u3002GATA3\u306f\u3001\u80f8\u817a\u3001\u809d\u81d3\u3001\u814e\u81d3\u3001\u526f\u814e\u3001\u4e2d\u67a2\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u7cfb\u3001\u80ce\u76e4\u3001T\u30ea\u30f3\u30d1\u7403\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u81d3\u5668\u3084\u7d44\u7e54\u306e\u767a\u751f\u904e\u7a0b\u3067\u767a\u73fe\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f6\u3064\u306e\u30b8\u30f3\u30af\u30d5\u30a3\u30f3\u30ac\u30fc\uff08zinc fingers\uff09\u3092\u6301\u3064\u8ee2\u5199\u56e0\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3066\u304a\u308a\u3001\u7279\u306b\u814e\u81d3\u3001\u5185\u8033\u3001\u526f\u7532\u72b6\u817a\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u6b63\u5e38\u306a\u5f62\u6210\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u3001GATA3\u304c\u80ce\u751f4\u9031\u76ee\u304b\u3089\u814e\u81d3\u306e\u524d\u814e\uff08mesonephros\uff09\u3067\u767a\u73fe\u3057\u59cb\u3081\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u80ce\u751f7\u9031\u76ee\u306b\u306f\u4e2d\u814e\uff08metanephros\uff09\u306e\u5c3f\u7ba1\u82bd\uff08ureteric bud\uff09\u3067\u767a\u73fe\u304c\u5f37\u307e\u308a\u3001\u3053\u306e\u6642\u671f\u306b\u814e\u306e\u5206\u5c90\u3084\u7d44\u7e54\u5206\u5316\u304c\u9032\u307f\u307e\u3059\u3002\u80ce\u751f32\u9031\u76ee\u307e\u3067\u3001GATA3\u306e\u767a\u73fe\u306f\u5c3f\u7ba1\u82bd\u3084\u96c6\u5408\u7ba1\u306e\u4e0a\u76ae\u7d30\u80de\u3067\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u9593\u3001\u814e\u81d3\u306e\u69cb\u9020\u5f62\u6210\u3092\u652f\u3048\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>HDR\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff08autosomal dominant\uff09\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7247\u65b9\u306e\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e21\u5074\u6027\u611f\u97f3\u6027\u96e3\u8074\u3084\u814e\u5f62\u6210\u7570\u5e38\u3001\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7\uff08\u5c3f\u304c\u814e\u81d3\u306b\u9006\u6d41\u3059\u308b\u72b6\u614b\uff09\u306a\u3069\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f10p\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u898b\u3089\u308c\u3001\u3053\u306e\u6b20\u5931\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff08DiGeorge syndrome\uff09\u306b\u985e\u4f3c\u3057\u305f\u81e8\u5e8a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\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\/2025\/01\/2891902_s.jpg\" alt=\"omutu on the table\" class=\"wp-image-90393\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>10p\u67d3\u8272\u4f53\u306e\u672b\u7aef\u6b20\u5931\uff08terminal deletion\uff09\u306f\u7a00\u3067\u3059\u304c\u3001\u7279\u6709\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u524d\u982d\u7a81\u51fa\u3001\u77ed\u3044\u773c\u88c2\u3001\u5185\u773c\u89d2\u8d05\u76ae\u3001\u5c0f\u984e\u75c7\u3001\u77ed\u9838\u3001\u5e83\u3044\u89aa\u6307\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u8180\u80f1\u5c3f\u7ba1\u7570\u5e38\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u3084\u5fc3\u9854\u75c7\u5019\u7fa4\uff08velocardiofacial syndrome\uff09\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3082\u95a2\u9023\u4ed8\u3051\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>GATA3\u907a\u4f1d\u5b50\u306f\u3001\u526f\u7532\u72b6\u817a\u3001\u8074\u899a\u7cfb\u3001\u814e\u81d3\u306e\u80da\u767a\u751f\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u5931\u3084\u5909\u7570\u306fHDR\u75c7\u5019\u7fa4\u306e\u767a\u75c7\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002\u307e\u305f\u3001GATA\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u3001\u4eba\u9593\u306e\u5947\u5f62\u3084\u767a\u751f\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u80cc\u666f\u304b\u3089\u3001GATA3\u907a\u4f1d\u5b50\u306e\u7814\u7a76\u306f\u3001HDR\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u7406\u89e3\u3084\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>HDR\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u305d\u306e\u907a\u4f1d\u7684\u304a\u3088\u3073\u5206\u5b50\u751f\u7269\u5b66\u7684\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u3001\u95a2\u9023\u3059\u308b\u907a\u4f1d\u75be\u60a3\u5168\u822c\u306e\u89e3\u660e\u306b\u3082\u3064\u306a\u304c\u308b\u91cd\u8981\u306a\u7814\u7a76\u5206\u91ce\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/smith-magenis-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Smith-Magenis \u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u306e\u8a73\u7d30\u306a\u8aac\u660e\u3002\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u60a3\u8005\u306e\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u77e5\u308a\u3001\u65e9\u671f\u4ecb\u5165\u306e\u91cd\u8981\u6027\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u306b...<\/div>\n      <\/div>\n    <\/a>\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_NEBL%E3%80%80%E5%BF%83%E7%AD%8B%E7%97%87%EF%BC%88Cardiomyopathy%EF%BC%89\"><\/span>[\uff13_NEBL]\u3000\u5fc3\u7b4b\u75c7\uff08Cardiomyopathy\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/NEBL-hgtIdeo_genome_230647_7b700-1024x20.png\" alt=\"\" class=\"wp-image-91386\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>NEBL\u907a\u4f1d\u5b50\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30cd\u30d6\u30ec\u30c3\u30c8\uff08Nebulette\uff09\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u3001\u5fc3\u7b4b\u7d30\u80de\u5185\u306e\u30b5\u30eb\u30b3\u30e1\u30a2\uff08\u7b4b\u7e4a\u7dad\u306e\u57fa\u672c\u7684\u306a\u53ce\u7e2e\u30e6\u30cb\u30c3\u30c8\uff09\u306e\u69cb\u9020\u3092\u7dad\u6301\u3057\u3001\u6a5f\u80fd\u3055\u305b\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u30a2\u30af\u30c1\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u7d50\u5408\u3057\u3001Z\u30c7\u30a3\u30b9\u30af\uff08\u7b4b\u53ce\u7e2e\u3092\u652f\u3048\u308b\u69cb\u9020\uff09\u3092\u5f62\u6210\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u3053\u306eZ\u30c7\u30a3\u30b9\u30af\u306f\u3001\u30b5\u30eb\u30b3\u30e1\u30a2\u5185\u3067\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u306e\u7aef\u3092\u56fa\u5b9a\u3059\u308b\u5f79\u5272\u3092\u6301\u3061\u3001\u7b4b\u8089\u304c\u52b9\u7387\u7684\u306b\u53ce\u7e2e\u30fb\u5f1b\u7de9\u3059\u308b\u305f\u3081\u306e\u57fa\u76e4\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u3001\u5fc3\u7b4b\u7d30\u80de\u5185\u306e\u30c7\u30b9\u30df\u30f3\u3068\u3044\u3046\u4e2d\u9593\u5f84\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3068\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u7d50\u3073\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u7b4b\u8089\u306e\u53ce\u7e2e\u3068\u5f1b\u7de9\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u884c\u3048\u308b\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002\u3053\u306e\u4ed5\u7d44\u307f\u306b\u3088\u308a\u3001\u5fc3\u7b4b\u306e\u30dd\u30f3\u30d7\u6a5f\u80fd\u3092\u652f\u3048\u308b\u6b63\u78ba\u306a\u53ce\u7e2e\u30b5\u30a4\u30af\u30eb\u304c\u7dad\u6301\u3055\u308c\u307e\u3059\u3002\u3082\u3057NEBL\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u305f\u308a\u3001\u5909\u7570\u306b\u3088\u308a\u6a5f\u80fd\u3092\u5931\u3063\u305f\u308a\u3059\u308b\u3068\u3001\u3053\u306e\u91cd\u8981\u306a\u9023\u643a\u304c\u5d29\u308c\u3001\u5fc3\u81d3\u306e\u69cb\u9020\u7684\u7570\u5e38\u3084\u6a5f\u80fd\u4e0d\u5168\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u7570\u5e38\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\uff08DiGeorge Syndrome 2, DGS2\uff09\u306b\u985e\u4f3c\u3057\u305f\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\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=\"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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30cd\u30d6\u30ec\u30c3\u30c8\u306e\u5909\u7570\u304c\u898b\u3089\u308c\u308b\u60a3\u8005\u306e\u5fc3\u7b4b\u3067\u306f\u3001\u7d30\u80de\u5185\u306e\u30c7\u30b9\u30df\u30f3\u4e2d\u9593\u5f84\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u7cfb\u304c\u4e71\u308c\u3001\u5fc3\u7b4b\u7d30\u80de\u306e\u69cb\u9020\u7684\u306a\u5b89\u5b9a\u6027\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u30c7\u30b9\u30df\u30f3\u306f\u3001\u30b5\u30eb\u30b3\u30e1\u30a2\u5185\u3067\u30cd\u30d6\u30ec\u30c3\u30c8\u3068\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u52b9\u7387\u3088\u304f\u7d50\u3073\u3064\u3051\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u30b5\u30eb\u30b3\u30e1\u30a2\u306e\u69cb\u9020\u3092\u7269\u7406\u7684\u306b\u5b89\u5b9a\u3055\u305b\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u5fc3\u7b4b\u306e\u53ce\u7e2e\u30fb\u5f1b\u7de9\u306e\u30ea\u30ba\u30e0\u3092\u7cbe\u5bc6\u306b\u8abf\u6574\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u306f\u3001\u30cd\u30d6\u30ea\u30f3\uff08Nebulin\uff09\u3068\u3044\u3046\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u5354\u529b\u3057\u3066\u5b9f\u73fe\u3055\u308c\u307e\u3059\u3002\u30cd\u30d6\u30ea\u30f3\u306f\u7b4b\u8089\u306e\u53ce\u7e2e\u306b\u5fc5\u8981\u306a\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u5168\u4f53\u7684\u306b\u5b89\u5b9a\u3055\u305b\u308b\u4e00\u65b9\u3001\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u5fc3\u81d3\u7279\u6709\u306e\u77ed\u3044\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u5b89\u5b9a\u5316\u3055\u305b\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u7e4a\u7dad\u304c\u52b9\u7387\u7684\u306b\u529b\u3092\u751f\u307f\u51fa\u3057\u4f1d\u9054\u3059\u308b\u306b\u306f\u3001\u30b5\u30eb\u30b3\u30e1\u30a2\u306e\u7cbe\u5bc6\u306a\u69cb\u9020\u304c\u5fc5\u8981\u3067\u3059\u3002\u96fb\u5b50\u9855\u5fae\u93e1\u306b\u3088\u308b\u89b3\u5bdf\u3067\u306f\u3001\u30a2\u30af\u30c1\u30f3\u3068\u30df\u30aa\u30b7\u30f3\u3068\u3044\u30462\u7a2e\u985e\u306e\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u304c\u898f\u5247\u6b63\u3057\u304f\u4e26\u3073\u3001\u305d\u308c\u305e\u308c\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u306fZ\u30c7\u30a3\u30b9\u30af\u306b\u56fa\u5b9a\u3055\u308c\u3001\u30df\u30aa\u30b7\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3068\u9023\u643a\u3057\u3066\u7b4b\u8089\u306e\u53ce\u7e2e\u904b\u52d5\u3092\u652f\u3048\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30c6\u30a3\u30c1\u30f3\uff08Titin\uff09\u3068\u3044\u3046\u5f3e\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u7d50\u3073\u3064\u3051\u3001\u30b5\u30eb\u30b3\u30e1\u30a2\u5168\u4f53\u306e\u5b89\u5b9a\u6027\u3092\u4fdd\u3064\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u8907\u96d1\u306a\u4ed5\u7d44\u307f\u306e\u4e2d\u3067\u3001\u30cd\u30d6\u30ec\u30c3\u30c8\u306f\u5fc3\u81d3\u306e\u7b4b\u7d30\u80de\u7279\u6709\u306e\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u652f\u3048\u308b\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30cd\u30d6\u30ec\u30c3\u30c8\u3084\u30cd\u30d6\u30ea\u30f3\u306e\u91cd\u8981\u6027\u306f\u3001\u3053\u308c\u3089\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\u304c\u7b4b\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304b\u3089\u3082\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30cd\u30d6\u30ec\u30c3\u30c8\u306e\u5909\u7570\u306f\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3084\u5de6\u5ba4\u975e\u30b3\u30f3\u30d1\u30af\u30b7\u30e7\u30f3\u578b\u5fc3\u7b4b\u75c7\u3001\u8584\u58c1\u578b\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u3001\u3055\u3089\u306b\u306f\u5fc3\u5185\u819c\u7dda\u7dad\u5f3e\u6027\u75c7\uff08endocardial fibroelastosis\uff09\u3068\u3044\u3063\u305f\u75c5\u614b\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u3001\u5fc3\u7b4b\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\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\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3055\u3089\u306b\u30012002\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001DGS2\u60a3\u8005\u306e\u4e00\u90e8\u3067\u67d3\u8272\u4f5310p14-p13\u9818\u57df\u304c\u30d8\u30c6\u30ed\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3053\u306e\u9818\u57df\u306b\u306fNEBL\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u6b20\u5931\u306f\u5fc3\u81d3\u3084\u9854\u9762\u306e\u7570\u5e38\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u3042\u308b\u60a3\u8005\u306f\u5fc3\u75be\u60a3\u3001\u514d\u75ab\u4e0d\u5168\u3001\u53e3\u84cb\u88c2\u3001\u9854\u9762\u306e\u5909\u5f62\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u306e\u75c7\u72b6\u3092\u793a\u3057\u307e\u3057\u305f\u3002\u307e\u305f\u5225\u306e\u60a3\u8005\u3067\u306f\u3001\u5c0f\u982d\u75c7\u3001\u5c0f\u773c\u7403\u75c7\u3001\u773c\u9593\u9694\u306e\u72ed\u3055\uff08\u4f4e\u773c\u9593\u9694\uff09\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3057\u305f\u3002\u4e00\u65b9\u3001HDR\u75c7\u5019\u7fa4\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u814e\u6a5f\u80fd\u7570\u5e38\u3001\u611f\u97f3\u6027\u96e3\u8074\uff09\u306e\u3088\u3046\u306a\u4ed6\u306e\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u6b20\u5931\u3067\u306f\u3001NEBL\u907a\u4f1d\u5b50\u306f\u6b20\u5931\u3057\u3066\u3044\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u5fc3\u81d3\u3084\u795e\u7d4c\u5824\u7531\u6765\u306e\u69cb\u9020\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u8ee2\u5199\u56e0\u5b50HAND2\u3082\u3001NEBL\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u8abf\u7bc0\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30de\u30a6\u30b9\u3068\u30d2\u30c8\u306e\u30b2\u30ce\u30e0\u6bd4\u8f03\u304b\u3089\u300110p\u9818\u57df\u306b\u30cd\u30d6\u30ec\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3001\u3053\u308c\u306fDGS2\u60a3\u8005\u306b\u898b\u3089\u308c\u308b\u5fc3\u81d3\u3084\u9854\u9762\u306e\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NEBL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u514d\u75ab\u4e0d\u5168\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u80ba\u52d5\u8108\u9589\u9396\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3001\u5927\u52d5\u8108\u5e79\u75c7\u3001\u5927\u52d5\u8108\u96e2\u65ad\u75c7\u306a\u3069\uff09\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u611f\u67d3\u75c7\u3078\u306e\u611f\u53d7\u6027\u306e\u5897\u52a0\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001NEBL\u907a\u4f1d\u5b50\u304c\u5fc3\u81d3\u3084\u305d\u306e\u4ed6\u306e\u767a\u9054\u30d7\u30ed\u30bb\u30b9\u306b\u304a\u3044\u3066\u3044\u304b\u306b\u91cd\u8981\u3067\u3042\u308b\u304b\u3092\u793a\u3057\u3066\u3044\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=\"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%94_ZMYND11%E3%80%80%E8%A8%80%E8%AA%9E%E9%81%85%E6%BB%9E%E3%81%A8%E8%A1%8C%E5%8B%95%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E5%84%AA%E6%80%A7%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B330%EF%BC%88Intellectual_developmental_disorder_autosomal_dominant_30_with_speech_delay_and_behavioral_abnormalities_MRD30%EF%BC%89\"><\/span>[\uff14_ZMYND11]\u3000\u8a00\u8a9e\u9045\u6ede\u3068\u884c\u52d5\u7570\u5e38\u3092\u4f34\u3046\u5e38\u67d3\u8272\u4f53\u512a\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb330\uff08Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities (MRD30)\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/34c1e7bcc841ccaa2e23f9662a25f605-1024x20.png\" alt=\"ZMYND11\u3000\u3000\" class=\"wp-image-91407\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ZMYND11\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e10\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0810p15.3\u9818\u57df\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u300c\u30b8\u30f3\u30af\u30d5\u30a3\u30f3\u30ac\u30fcMYND\u30c9\u30e1\u30a4\u30f3\u542b\u6709\u30bf\u30f3\u30d1\u30af\u8cea11\u300d\uff08Zinc finger MYND domain-containing protein 11\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u4e3b\u306b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001RNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcII\u304c\u907a\u4f1d\u5b50\u3092\u8ee2\u5199\u3059\u308b\u969b\u306e\u300c\u4f38\u9577\u6bb5\u968e\u300d\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u6291\u5236\u56e0\u5b50\uff08transcriptional repressor\uff09\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u3053\u3053\u3067\u300c\u4f38\u9577\u6bb5\u968e\u300d\u3068\u306f\u3001RNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcII\u304cDNA\u306e\u914d\u5217\u3092\u57fa\u306bRNA\u3092\u5408\u6210\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306e\u4e2d\u9593\u904e\u7a0b\u3092\u6307\u3057\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u8abf\u7bc0\u3059\u308b\u3053\u3068\u3067\u3001ZMYND11\u306f\u7d30\u80de\u306e\u6210\u9577\u3084\u5206\u5316\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001ZMYND11\u306f\u300c\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30fc\u30c0\u30fc\u300d\u3068\u3057\u3066\u3001\u30d2\u30b9\u30c8\u30f3H3.3\u306e\u30ea\u30b7\u30f336\u304c\u30c8\u30ea\u30e1\u30c1\u30eb\u5316\u3055\u308c\u305f\u4fee\u98fe\uff08H3.3K36me3\uff09\u3092\u8a8d\u8b58\u3057\u3066\u7d50\u5408\u3057\u307e\u3059\u3002\u30d2\u30b9\u30c8\u30f3\u4fee\u98fe\u306f\u3001DNA\u304c\u3069\u306e\u3088\u3046\u306b\u6298\u308a\u7573\u307e\u308c\u3066\u3044\u308b\u304b\u3001\u3064\u307e\u308a\u907a\u4f1d\u5b50\u304c\u3069\u308c\u307b\u3069\u6d3b\u6027\u5316\u3055\u308c\u308b\u304b\u3092\u6c7a\u5b9a\u3059\u308b\u91cd\u8981\u306a\u8981\u56e0\u3067\u3059\u3002ZMYND11\u306f\u3053\u306e\u4fee\u98fe\u3092\u4ecb\u3057\u3066\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u6291\u5236\u3057\u3001\u816b\u760d\u7d30\u80de\u306e\u5897\u6b96\u306b\u5fc5\u8981\u306a\u8ee2\u5199\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u6291\u3048\u308b\u3053\u3068\u3067\u3001\u816b\u760d\u6291\u5236\u56e0\u5b50\u3068\u3057\u3066\u306e\u5f79\u5272\u3082\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u30fb\u30d0\u30fc\u30a6\u30a4\u30eb\u30b9\uff08EBV\uff09\u306e\u8ee2\u5199\u6d3b\u6027\u5316\u3092\u6291\u5236\u3057\u3001\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u5f8c\u306e\u5bbf\u4e3b\u7d30\u80de\u306e\u5897\u6b96\u3092\u5236\u5fa1\u3059\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\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\/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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ZMYND11\u907a\u4f1d\u5b50\u306e\u75c5\u539f\u6027\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u300c\u5e38\u67d3\u8272\u4f53\u512a\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb330\uff08MRD30\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u75be\u60a3\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002MRD30\u306f\u3001\u767a\u9054\u671f\u306b\u304a\u3051\u308b\u77e5\u7684\u6a5f\u80fd\u306e\u5927\u5e45\u306a\u4f4e\u4e0b\u3068\u9069\u5fdc\u884c\u52d5\u306e\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u60a3\u8005\u306f\u3001\u767a\u9054\u9045\u6ede\u3001\u7279\u306b\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u793a\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u7279\u5fb4\u3001\u653b\u6483\u7684\u884c\u52d5\u306a\u3069\u306e\u884c\u52d5\u7570\u5e38\u304c\u4e00\u822c\u7684\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u773c\u9593\u9694\u304c\u5e83\u3044\uff08\u773c\u9593\u9694\u96e2\u5e83\uff09\u3001\u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308b\uff08\u773c\u77bc\u4e0b\u5782\uff09\u3001\u53e3\u304c\u5e83\u3044\u3068\u3044\u3063\u305f\u5fae\u7d30\u306a\u9854\u9762\u5f62\u614b\u7570\u5e38\u3084\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u3055\u3089\u306b\u306f\u3066\u3093\u304b\u3093\u767a\u4f5c\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001MRD30\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u304c\u3055\u3089\u306b\u8a73\u3057\u304f\u691c\u8a0e\u3055\u308c\u3001\u65b0\u305f\u306b16\u540d\u306e\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002\u305d\u306e\u4e2d\u306b\u306f\u4e00\u3064\u306e\u5bb6\u7cfb\u304b\u3089\u306e4\u540d\u304c\u542b\u307e\u308c\u3001\u3053\u308c\u306b\u3088\u308aZMYND11\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u7684\u304a\u3088\u3073\u81e8\u5e8a\u7684\u306a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u304c\u3055\u3089\u306b\u62e1\u5927\u3055\u308c\u307e\u3057\u305f\u3002\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u75c7\u72b6\u3068\u3057\u3066\u3001\u767a\u9054\u9045\u6ede\uff08\u7279\u306b\u8a00\u8a9e\u767a\u9054\uff09\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u884c\u52d5\u7570\u5e38\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u77ed\u6307\u75c7\u3084\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u3068\u3044\u3063\u305f\u9aa8\u683c\u3084\u6b6f\u306e\u7570\u5e38\u3082\u65b0\u305f\u306b\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9854\u8c8c\u306e\u7279\u5fb4\u306b\u306f\u3001\u76ee\u7acb\u3064\u307e\u3064\u6bdb\u3084\u7709\u6bdb\u3001\u4f4e\u304f\u3078\u3053\u3093\u3060\u9f3b\u6881\u3001\u4e38\u307f\u3092\u5e2f\u3073\u305f\u9f3b\u5148\u3001\u524d\u5411\u304d\u306e\u9f3b\u5b54\u3001\u8584\u3044\u4e0a\u5507\u306e\u8d64\u5507\u7e01\u3001\u5e83\u3044\u53e3\u304c\u542b\u307e\u308c\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\/23502599_s-1.jpg\" alt=\"\u306c\u3044\u3050\u308b\u307f\" class=\"wp-image-88641\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ZMYND11\u306e\u75c5\u539f\u6027\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u4e3b\u306b\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308b\u534a\u6570\u4e0d\u5341\u5206\u6027\uff08haploinsufficiency\uff09\u306b\u3088\u308b\u3082\u306e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u7279\u5b9a\u306e\u5909\u7570\u306b\u304a\u3044\u3066\u306f\u3001\u6a5f\u80fd\u7372\u5f97\uff08gain-of-function\uff09\u306b\u3088\u308b\u3088\u308a\u91cd\u7be4\u306a\u75c7\u72b6\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u306f\u3001ZMYND11\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u304c\u5358\u4e00\u306e\u539f\u56e0\u3067\u306f\u8aac\u660e\u3067\u304d\u306a\u3044\u8907\u96d1\u306a\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u4f53\u3068\u3057\u3066\u3001ZMYND11\u95a2\u9023\u75c7\u5019\u7fa4\uff08MRD30\uff09\u306f\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u767a\u9054\u9045\u6ede\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u884c\u52d5\u7570\u5e38\u3001\u3066\u3093\u304b\u3093\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9854\u9762\u5f62\u614b\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u5f71\u97ff\u306f\u60a3\u8005\u672c\u4eba\u3060\u3051\u3067\u306a\u304f\u3001\u5bb6\u65cf\u306b\u3082\u5fc3\u7406\u793e\u4f1a\u7684\u306a\u8ca0\u62c5\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u500b\u5225\u5316\u3055\u308c\u305f\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u533b\u7642\u3068\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u60a3\u8005\u3084\u5bb6\u65cf\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<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%95_OPTN%E3%80%80%E7%AD%8B%E8%90%8E%E7%B8%AE%E6%80%A7%E5%81%B4%E7%B4%A2%E7%A1%AC%E5%8C%96%E7%97%8712%E5%9E%8B%EF%BC%88Amyotrophic_Lateral_Sclerosis_12_ALS12%EF%BC%89\"><\/span>[\uff15_OPTN]\u3000\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c712\u578b\uff08Amyotrophic Lateral Sclerosis 12 (ALS12)\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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/10p13-OPTNhgtIdeo_genome_2d27a9_84650-1024x20.png\" alt=\"OPTN\" class=\"wp-image-91414\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c712\u578b\uff08Amyotrophic Lateral Sclerosis 12, ALS12\uff09\u306f\u3001\u907a\u4f1d\u5b50OPTN\uff0810p13\u9818\u57df\u306b\u4f4d\u7f6e\uff09\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u8eab\u4f53\u306e\u7b4b\u8089\u3092\u52d5\u304b\u3059\u305f\u3081\u306e\u6307\u4ee4\u3092\u51fa\u3059\u795e\u7d4c\u7d30\u80de\uff09\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u4e3b\u306b\u7279\u5fb4\u3068\u3057\u307e\u3059\u304c\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u8a8d\u77e5\u75c7\u3084\u884c\u52d5\u5909\u5316\u3092\u542b\u3080\u524d\u982d\u5074\u982d\u8449\u306e\u5e83\u7bc4\u306a\u6a5f\u80fd\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002ALS12\u306f\u3001\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u9032\u884c\u901f\u5ea6\u3001\u6cbb\u7642\u6cd5\u306e\u70b9\u3067\u4ed6\u306eALS\u30bf\u30a4\u30d7\u3068\u985e\u4f3c\u70b9\u3092\u6301\u3061\u306a\u304c\u3089\u3082\u3001\u72ec\u81ea\u306e\u7279\u5fb4\u3092\u6301\u3064\u8907\u96d1\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>ALS\u5168\u822c\u306f\u3001\u8133\u304a\u3088\u3073\u810a\u9ac4\u306e\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u9000\u884c\u6027\u5909\u5316\u3092\u4f34\u3046\u9032\u884c\u6027\u304b\u3064\u81f4\u547d\u7684\u306a\u795e\u7d4c\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u306f\u3001\u8133\u3068\u810a\u9ac4\u3067\u4e8c\u3064\u306e\u968e\u5c64\u306b\u5206\u304b\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f\u305d\u308c\u305e\u308c\u4e0a\u4f4d\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff08UMN\uff09\u3068\u4e0b\u4f4d\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff08LMN\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002UMN\u306f\u8133\u306e\u524d\u982d\u8449\u306b\u4f4d\u7f6e\u3057\u3001\u8133\u5e79\u3084\u810a\u9ac4\u3092\u4ecb\u3057\u3066\u7b4b\u8089\u306e\u52d5\u304d\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u3053\u306e\u90e8\u5206\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u306a\u5897\u52a0\uff08\u75d9\u7e2e\uff09\u3084\u6df1\u90e8\u8171\u53cd\u5c04\u306e\u4ea2\u9032\u3001\u30d0\u30d3\u30f3\u30b9\u30ad\u30fc\u53cd\u5c04\uff08\u8db3\u5e95\u53cd\u5c04\u306e\u7570\u5e38\uff09\u304c\u73fe\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001LMN\u306f\u810a\u9ac4\u3084\u8133\u5e79\u306b\u5b58\u5728\u3057\u3001\u76f4\u63a5\u7684\u306b\u7b4b\u8089\u3092\u652f\u914d\u3057\u307e\u3059\u3002\u3053\u306e\u90e8\u5206\u306e\u969c\u5bb3\u306f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u7b4b\u8089\u306e\u840e\u7e2e\u3001\u7b4b\u7dda\u7dad\u675f\u6523\u7e2e\uff08\u7b4b\u8089\u306e\u7d30\u304b\u3044\u9707\u3048\uff09\u3001\u7b4b\u75d9\u6523\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\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\/23563729_s.jpg\" alt=\"\u62b1\u304d\u3057\u3081\u308b\" class=\"wp-image-91158\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ALS\u306e\u521d\u671f\u75c7\u72b6\u306f\u3001\u60a3\u8005\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u7247\u5074\u306e\u624b\u3084\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u3042\u308b\u3044\u306f\u56a5\u4e0b\u3084\u767a\u8a71\u306e\u56f0\u96e3\u3068\u3044\u3063\u305f\u7403\u9ebb\u75fa\uff08bulbar palsy\uff09\u306e\u75c7\u72b6\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3066\u3001\u7b4b\u8089\u306e\u75d9\u6523\u3084\u611f\u60c5\u306e\u4e0d\u5b89\u5b9a\u6027\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001ALS\u3067\u306f\u611f\u899a\u6a5f\u80fd\u306f\u901a\u5e38\u4fdd\u305f\u308c\u308b\u305f\u3081\u3001\u611f\u899a\u969c\u5bb3\u306f\u307b\u3068\u3093\u3069\u5831\u544a\u3055\u308c\u307e\u305b\u3093\u3002ALS\u306e\u5178\u578b\u7684\u306a\u8a3a\u65ad\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u7b4b\u840e\u7e2e\u3092\u4f34\u3046\u7b4b\u8089\u7fa4\u306b\u304a\u3051\u308b\u53cd\u5c04\u4ea2\u9032\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002ALS\u306b\u306f\u3055\u3089\u306b\u3044\u304f\u3064\u304b\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u300c\u56db\u80a2\u578bALS\u300d\u3067\u306f\u56db\u80a2\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u4e3b\u75c7\u72b6\u3068\u306a\u308a\u3001\u300c\u7403\u9ebb\u75fa\u578bALS\u300d\u3067\u306f\u767a\u8a71\u3084\u56a5\u4e0b\u969c\u5bb3\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002\u4ed6\u306b\u3082\u3001LMN\u306e\u969c\u5bb3\u304c\u4e3b\u3067\u3042\u308b\u300c\u9032\u884c\u6027\u7b4b\u840e\u7e2e\u75c7\uff08PMA\uff09\u300d\u3084\u3001UMN\u306e\u969c\u5bb3\u304c\u76ee\u7acb\u3064\u300c\u4e0a\u4f4d\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u512a\u4f4d\u578bALS\u300d\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001ALS\u306f\u5358\u306a\u308b\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u969c\u5bb3\u306b\u3068\u3069\u307e\u3089\u305a\u3001\u8a8d\u77e5\u6a5f\u80fd\u3084\u884c\u52d5\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u308b\u3068\u3001ALS\u60a3\u8005\u306e\u7d0445\uff05\u304c\u4f55\u3089\u304b\u306e\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\u3092\u793a\u3057\u3001\u305d\u306e\u4e2d\u306b\u306f\u8a08\u753b\u529b\u3084\u5224\u65ad\u529b\u3001\u8a18\u61b6\u529b\u306e\u4f4e\u4e0b\u3001\u611f\u60c5\u3084\u885d\u52d5\u306e\u5236\u5fa1\u56f0\u96e3\u3068\u3044\u3063\u305f\u300c\u5b9f\u884c\u6a5f\u80fd\uff08executive function\uff09\u300d\u306e\u969c\u5bb3\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8a00\u8a9e\u80fd\u529b\u306e\u4f4e\u4e0b\u3084\u793e\u4f1a\u7684\u8a8d\u77e5\uff08\u4ed6\u8005\u306e\u611f\u60c5\u3084\u72b6\u6cc1\u3092\u7406\u89e3\u3059\u308b\u80fd\u529b\uff09\u306e\u969c\u5bb3\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u91cd\u7be4\u5316\u3059\u308b\u3068\u3001\u524d\u982d\u5074\u982d\u578b\u8a8d\u77e5\u75c7\uff08FTD\uff09\u3092\u4f75\u767a\u3057\u3001\u793e\u4f1a\u7684\u306b\u4e0d\u9069\u5207\u306a\u884c\u52d5\u3084\u5224\u65ad\u529b\u306e\u4f4e\u4e0b\u3001\u4eba\u683c\u5909\u5316\u304c\u9855\u8457\u306b\u306a\u308b\u5834\u5408\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=\"425\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25622462_s.jpg\" alt=\"\u5fc3\u914d\u3068\u306f\u3001\u76f8\u624b\u306e\u3053\u3068\u3092\u601d\u3044\u3001\u5fc3\u3092\u914d\u308b\u884c\u52d5\u3067\u3059\" class=\"wp-image-87667\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ALS\u304a\u3088\u3073ALS\/FTD\u306e\u8a3a\u65ad\u306b\u306f\u3001\u904b\u52d5\u7cfb\u304a\u3088\u3073\u795e\u7d4c\u5fc3\u7406\u5b66\u7684\u306a\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002\u904b\u52d5\u7cfb\u306e\u8a55\u4fa1\u306b\u306f\u300c\u30a8\u30b9\u30b3\u30ea\u30a2\u30eb\u57fa\u6e96\uff08Escorial criteria\uff09\u300d\u3068\u300c\u6de1\u8def\u57fa\u6e96\uff08Awaji criteria\uff09\u300d\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u795e\u7d4c\u5fc3\u7406\u5b66\u7684\u8a55\u4fa1\u3067\u306f\u3001\u300cALS Cognitive Behavioral Screen\uff08ALS-CBS\uff09\u300d\u306e\u3088\u3046\u306a\u7c21\u4fbf\u306a\u30c4\u30fc\u30eb\u304c\u6d3b\u7528\u3055\u308c\u3001\u8a8d\u77e5\u6a5f\u80fd\u3084\u884c\u52d5\u306e\u5909\u5316\u304c\u52b9\u7387\u7684\u306b\u8a55\u4fa1\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>ALS\u306e\u6cbb\u7642\u306f\u57fa\u672c\u7684\u306b\u75c7\u72b6\u3092\u8efd\u6e1b\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3042\u308a\u3001\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002FDA\u306b\u627f\u8a8d\u3055\u308c\u3066\u3044\u308b\u85ac\u5264\u306b\u306f\u3001\u30ea\u30eb\u30be\u30fc\u30eb\uff08Riluzole\uff09\u3001\u30a8\u30c0\u30e9\u30dc\u30f3\uff08Edaravone\uff09\u3001\u304a\u3088\u30732023\u5e74\u306b\u627f\u8a8d\u3055\u308c\u305f\u30c8\u30d5\u30a7\u30eb\u30bb\u30f3\uff08Tofersen\uff09\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u75c5\u72b6\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u88dc\u52a9\u5177\u3092\u6d3b\u7528\u3057\u305f\u904b\u52d5\u6a5f\u80fd\u306e\u88dc\u5b8c\u3084\u3001\u56a5\u4e0b\u56f0\u96e3\u306b\u5bfe\u3059\u308b\u6804\u990a\u7ba1\u7406\u3082\u4e88\u5f8c\u306e\u6539\u5584\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>ALS\u306e\u9032\u884c\u901f\u5ea6\u3084\u4e88\u5f8c\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308a\u3001\u907a\u4f1d\u7684\u8981\u56e0\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\u306f\u65e9\u671f\u767a\u75c7\u306e\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u9032\u884c\u306b\u4f34\u3044\u7b4b\u529b\u4f4e\u4e0b\u3084\u840e\u7e2e\u304c\u5e83\u304c\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u547c\u5438\u7b4b\u306e\u9ebb\u75fa\u304c\u6b7b\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u9069\u5207\u306a\u533b\u7642\u7684\u30fb\u5fc3\u7406\u7684\u652f\u63f4\u306f\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\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=\"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%96_PHYH%E3%80%80%E3%83%AC%E3%83%95%E3%82%B5%E3%83%A0%E7%97%85%EF%BC%88Refsum_disease%EF%BC%89\"><\/span>[\uff16_PHYH]\u3000\u30ec\u30d5\u30b5\u30e0\u75c5\uff08Refsum 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\/342323b6e6e8364b9d66b5b5030ac541-1024x20.png\" alt=\"10p13p15\u3000\" class=\"wp-image-91320\"\/><\/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\/PHYH-hgtIdeo_genome_2f3894_86db0-1024x20.png\" alt=\"PHYH\" class=\"wp-image-91428\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ec\u30d5\u30b5\u30e0\u75c5\uff08Refsum disease\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u300110p13\u907a\u4f1d\u5b50\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bPHYH\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u4e3b\u306a\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u8102\u8cea\u4ee3\u8b1d\u306b\u304a\u3051\u308b\u7570\u5e38\u304c\u539f\u56e0\u3067\u3001\u30d6\u30e9\u30f3\u30c1\u578b\u8102\u80aa\u9178\u3067\u3042\u308b\u30d5\u30a3\u30bf\u30f3\u9178\uff08phytanic acid\uff09\u304c\u4f53\u5185\u3067\u6b63\u5e38\u306b\u5206\u89e3\u3055\u308c\u305a\u3001\u8840\u6db2\u3084\u7d44\u7e54\u306b\u84c4\u7a4d\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u84c4\u7a4d\u306f\u7d30\u80de\u306b\u6709\u5bb3\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30d5\u30b5\u30e0\u75c5\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306b\u306f\u3001\u8996\u529b\u969c\u5bb3\u3001\u55c5\u899a\u306e\u55aa\u5931\uff08\u55c5\u899a\u8131\u5931\uff1aanosmia\uff09\u3001\u76ae\u819a\u306e\u4e7e\u71e5\u3084\u9c57\u72b6\u306e\u5916\u89b3\uff08\u9b5a\u9c57\u766c\uff1aichthyosis\uff09\u3001\u5fc3\u6a5f\u80fd\u7570\u5e38\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u306f\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u5e73\u8861\u611f\u899a\u306e\u4f4e\u4e0b\uff08\u904b\u52d5\u5931\u8abf\uff1aataxia\uff09\u3001\u8074\u529b\u4f4e\u4e0b\u3001\u9aa8\u683c\u306e\u7570\u5e38\uff08\u77ed\u3044\u6307\u3084\u8db3\u306e\u9aa8\u306a\u3069\uff09\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308b\u9032\u884c\u901f\u5ea6\u3084\u91cd\u75c7\u5ea6\u3092\u793a\u3059\u305f\u3081\u3001\u975e\u5e38\u306b\u591a\u69d8\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>PHYH\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306b\u5b58\u5728\u3059\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u3068\u3044\u3046\u5c0f\u3055\u306a\u69cb\u9020\u4f53\u3067\u50cd\u304f\u9175\u7d20\u300c\u30d5\u30a3\u30bf\u30ce\u30a4\u30ebCoA\u30b8\u30aa\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\uff08phytanoyl-CoA dioxygenase\uff09\u300d\u3092\u751f\u6210\u3059\u308b\u6307\u793a\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u30d5\u30a3\u30bf\u30f3\u9178\u306e\u5206\u89e3\u904e\u7a0b\u306e\u521d\u671f\u6bb5\u968e\u3092\u62c5\u3044\u3001\u30d5\u30a3\u30bf\u30ce\u30a4\u30ebCoA\u30922-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d5\u30a3\u30bf\u30ce\u30a4\u30ebCoA\u306b\u5909\u63db\u3057\u307e\u3059\u3002\u3053\u306e\u5206\u89e3\u30d7\u30ed\u30bb\u30b9\uff08\u30a2\u30eb\u30d5\u30a1\u9178\u5316\uff1aalpha-oxidation\uff09\u306f\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u5fc5\u8981\u4e0d\u53ef\u6b20\u306a\u904e\u7a0b\u3067\u3001\u5206\u89e3\u3055\u308c\u306a\u3051\u308c\u3070\u30d5\u30a3\u30bf\u30f3\u9178\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\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=\"359\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31423182_s.jpg\" alt=\"\u6804\u990a\" class=\"wp-image-87412\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PHYH\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u9175\u7d20\u306e\u69cb\u9020\u3084\u7523\u751f\u304c\u7570\u5e38\u3068\u306a\u308a\u3001\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30d5\u30a3\u30bf\u30f3\u9178\u306e\u5206\u89e3\u304c\u59a8\u3052\u3089\u308c\u3001\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u30d5\u30a3\u30bf\u30f3\u9178\u304c\u7d30\u80de\u306b\u6bd2\u6027\u3092\u4e0e\u3048\u308b\u4ed5\u7d44\u307f\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u8996\u529b\u3084\u55c5\u899a\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u529b\u969c\u5bb3\u306f\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08retinitis pigmentosa\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u7db2\u819c\u306f\u76ee\u306e\u5965\u306b\u3042\u308b\u5149\u3092\u611f\u77e5\u3059\u308b\u7d44\u7e54\u3067\u3001\u3053\u308c\u304c\u640d\u50b7\u3059\u308b\u3068\u591c\u76f2\u75c7\u304c\u521d\u671f\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u8996\u91ce\u304c\u5f90\u3005\u306b\u72ed\u304f\u306a\u308a\u3001\u9032\u884c\u3059\u308b\u3068\u5931\u660e\u306b\u81f3\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u55c5\u899a\u8131\u5931\u306f\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3042\u308a\u3001\u55c5\u899a\u306e\u5b8c\u5168\u306a\u55aa\u5931\u3084\u4f4e\u4e0b\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u5e73\u8861\u611f\u899a\u306e\u969c\u5bb3\u3001\u8074\u529b\u4f4e\u4e0b\u3001\u9aa8\u306e\u7570\u5e38\u3001\u5fc3\u81d3\u306e\u4e0d\u6574\u8108\u3084\u5fc3\u7b4b\u75c7\u306a\u3069\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u5fc3\u81d3\u95a2\u9023\u306e\u75c7\u72b6\u306f\u3001\u9ad8\u9f62\u5316\u3068\u3068\u3082\u306b\u73fe\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u751f\u547d\u3092\u8105\u304b\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30d5\u30b5\u30e0\u75c5\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u60a3\u8005\u304c\u3053\u306e\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u540c\u3058\u5bb6\u65cf\u5185\u3067\u8907\u6570\u306e\u767a\u75c7\u4f8b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u691c\u67fb\u3067\u30d5\u30a3\u30bf\u30f3\u9178\u6fc3\u5ea6\u306e\u4e0a\u6607\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3084\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308bPHYH\u907a\u4f1d\u5b50\u3084\u95a2\u9023\u907a\u4f1d\u5b50PEX7\u306e\u5909\u7570\u306e\u7279\u5b9a\u306b\u3088\u3063\u3066\u884c\u308f\u308c\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=\"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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3001\u30d5\u30a3\u30bf\u30f3\u9178\u306e\u6442\u53d6\u3092\u5236\u9650\u3059\u308b\u98df\u4e8b\u7642\u6cd5\u3067\u3059\u3002\u30d5\u30a3\u30bf\u30f3\u9178\u306f\u4e3b\u306b\u725b\u8089\u3084\u4e73\u88fd\u54c1\u306a\u3069\u306e\u53cd\u82bb\u52d5\u7269\u7531\u6765\u306e\u98df\u54c1\u306b\u591a\u304f\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u3092\u907f\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u30d7\u30e9\u30ba\u30de\u30d5\u30a7\u30ec\u30b7\u30b9\uff08\u8840\u6f3f\u4ea4\u63db\u7642\u6cd5\uff09\u3084\u8102\u8cea\u30a2\u30d5\u30a7\u30ec\u30fc\u30b7\u30b9\u3092\u7528\u3044\u3066\u8840\u4e2d\u306e\u30d5\u30a3\u30bf\u30f3\u9178\u6fc3\u5ea6\u3092\u76f4\u63a5\u4e0b\u3052\u308b\u65b9\u6cd5\u3082\u9069\u7528\u3055\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u8102\u80aa\u7d44\u7e54\u306b\u84c4\u7a4d\u3055\u308c\u305f\u30d5\u30a3\u30bf\u30f3\u9178\u304c\u8840\u6db2\u4e2d\u306b\u653e\u51fa\u3055\u308c\u308b\u306e\u3092\u9632\u3050\u305f\u3081\u306b\u3001\u9069\u5207\u306a\u4f53\u91cd\u7ba1\u7406\u3092\u884c\u3044\u3001\u65ad\u98df\u3084\u6025\u6fc0\u306a\u4f53\u91cd\u6e1b\u5c11\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5973\u6027\u60a3\u8005\u306e\u5834\u5408\u3001\u598a\u5a20\u4e2d\u306f\u4ee3\u8b1d\u304c\u5909\u5316\u3057\u3084\u3059\u304f\u3001\u30d5\u30a3\u30bf\u30f3\u9178\u6fc3\u5ea6\u306e\u7ba1\u7406\u304c\u7279\u306b\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u6bcd\u4e73\u306b\u306f\u30d5\u30a3\u30bf\u30f3\u9178\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u6388\u4e73\u306f\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3053\u308c\u306f\u3001\u6bcd\u4e73\u3092\u901a\u3058\u305f\u30d5\u30a3\u30bf\u30f3\u9178\u306e\u65b0\u751f\u5150\u3078\u306e\u79fb\u884c\u3092\u9632\u3050\u3060\u3051\u3067\u306a\u304f\u3001\u6bcd\u89aa\u81ea\u8eab\u306e\u4ee3\u8b1d\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3064\u305f\u3081\u306b\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u958b\u59cb\u304c\u75c7\u72b6\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u306f\u3001\u773c\u79d1\u533b\u3001\u795e\u7d4c\u5185\u79d1\u533b\u3001\u5fc3\u81d3\u5c02\u9580\u533b\u3001\u8033\u9f3b\u79d1\u533b\u3001\u6804\u990a\u58eb\u3001\u76ae\u819a\u79d1\u533b\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u5206\u91ce\u306e\u533b\u5e2b\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\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<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\/NBK1353\/\">Waterham HR, Wanders RJA, Leroy BP. Adult Refsum Disease. 2006 Mar 20 [Updated 2021 Sep 30]. 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\/NBK1353\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1450\/\">Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. 2001 Mar 23 [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\/NBK1450\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ng.3092\">Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E., Schuurs-Hoeijmakers, J. H., Hoischen, A., Pfundt, R., Krumm, N., Carvill, G. L., Li, D., Amaral, D., Brown, N., Lockhart, P. J., Scheffer, I. E., \u2026 Eichler, E. E. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. <em>Nature genetics<\/em>, <em>46<\/em>(10), 1063\u20131071. https:\/\/doi.org\/10.1038\/ng.3092<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.24001\">Yates, T. M., Drucker, M., Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O&#8217;Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., \u2026 Balasubramanian, M. (2020). ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. <em>Human mutation<\/em>, <em>41<\/em>(5), 1042\u20131050. https:\/\/doi.org\/10.1002\/humu.24001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1074\/jbc.M310304200\">Li, B., Zhuang, L., &amp; Trueb, B. (2004). Zyxin interacts with the sh3 domains of the cytoskeletal proteins lim-nebulette and lasp-1. <em>Journal of Biological Chemistry<\/em>, <em>279<\/em>(19), 20401\u201320410. https:\/\/doi.org\/10.1074\/jbc.M310304200<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1091\/mbc.E16-04-0237\">Hernandez, D. A., Bennett, C. M., Dunina-Barkovskaya, L., Wedig, T., Capetanaki, Y., Herrmann, H., &amp; Conover, G. M. (2016). Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. <em>Molecular biology of the cell<\/em>, <em>27<\/em>(24), 3869\u20133882. https:\/\/doi.org\/10.1091\/mbc.E16-04-0237<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1006\/geno.2002.7009\">Villanueva, M. P., Aiyer, A. R., Muller, S., Pletcher, M. T., Liu, X., Emanuel, B., Srivastava, D., &amp; Reeves, R. H. (2002). Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene. <em>Genomics<\/em>, <em>80<\/em>(6), 593\u2013600. https:\/\/doi.org\/10.1006\/geno.2002.7009<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/35019088\">Van Esch, H., Groenen, P., Nesbit, M. <em>et al.<\/em> GATA3 haplo-insufficiency causes human HDR syndrome. <em>Nature<\/em> 406, 419\u2013422 (2000). https:\/\/doi.org\/10.1038\/35019088<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1507\/endocrj.k10e-234\">Fukami, M., Muroya, K., Miyake, T., Iso, M., Kato, F., Yokoi, H., Suzuki, Y., Tsubouchi, K., Nakagomi, Y., Kikuchi, N., Horikawa, R., &amp; Ogata, T. (2011). GATA3 abnormalities in six patients with HDR syndrome. <em>Endocrine journal<\/em>, <em>58<\/em>(2), 117\u2013121. https:\/\/doi.org\/10.1507\/endocrj.k10e-234<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.31590\" data-type=\"link\" data-id=\"https:\/\/doi.org\/10.1002\/ajmg.a.31590\">Battaglia, A., Novelli, A., Ceccarini, C., Bernardini, L., &amp; Carey, J. C. (2007). Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. American Journal of Medical Genetics Part A, 143A(2), 184\u2013188. https:\/\/doi.org\/10.1002\/ajmg.a.31590&nbsp;<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.yexmp.2008.10.003\">Benetti, E., Murer, L., Bordugo, A., Andreetta, B., &amp; Artifoni, L. (2009). 10p12.1 deletion: HDR phenotype without DGS2 features. <em>Experimental and Molecular Pathology<\/em>, <em>86<\/em>(1), 74\u201376. https:\/\/doi.org\/10.1016\/j.yexmp.2008.10.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13039-021-00546-1\">Shao, QY., Wu, PL., Lin, BY. <em>et al.<\/em> Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature. <em>Mol Cytogenet<\/em> <strong>14<\/strong>, 29 (2021). https:\/\/doi.org\/10.1186\/s13039-021-00546-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.24130\">Itai, T., Hamanaka, K., Sasaki, K., Wagner, M., Kotzaeridou, U., Br\u00f6sse, I., Ries, M., Kobayashi, Y., Tohyama, J., Kato, M., Ong, W. P., Chew, H. B., Rethanavelu, K., Ranza, E., Blanc, X., Uchiyama, Y., Tsuchida, N., Fujita, A., Azuma, Y., Koshimizu, E., \u2026 Matsumoto, N. (2021). De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. <em>Human mutation<\/em>, <em>42<\/em>(1), 66\u201376. https:\/\/doi.org\/10.1002\/humu.24130<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/j.1651-2227.2008.01037.x\">Chao, P.-H., Chao, M.-C., Hwang, K.-P., &amp; Chung, M.-Y. (2009). Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome. Acta Paediatrica, 98(1), 195\u2013198. https:\/\/doi.org\/10.1111\/j.1651-2227.2008.01037.x&nbsp;<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/jmg.37.1.33\">Lichtner, P., K\u00f6nig, R., Hasegawa, T., Van Esch, H., Meitinger, T., &amp; Schuffenhauer, S. (2000). An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13\/14. <em>Journal of medical genetics<\/em>, <em>37<\/em>(1), 33\u201337. https:\/\/doi.org\/10.1136\/jmg.37.1.33<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.24130\">Itai, T., Hamanaka, K., Sasaki, K., Wagner, M., Kotzaeridou, U., Br\u00f6sse, I., Ries, M., Kobayashi, Y., Tohyama, J., Kato, M., Ong, W. P., Chew, H. B., Rethanavelu, K., Ranza, E., Blanc, X., Uchiyama, Y., Tsuchida, N., Fujita, A., Azuma, Y., Koshimizu, E., \u2026 Matsumoto, N. (2021). De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. <em>Human mutation<\/em>, <em>42<\/em>(1), 66\u201376. https:\/\/doi.org\/10.1002\/humu.24130<\/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. 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