{"id":60343,"date":"2023-08-25T11:34:32","date_gmt":"2023-08-25T02:34:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60343"},"modified":"2026-05-08T13:39:05","modified_gmt":"2026-05-08T04:39:05","slug":"bloom-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bloom-syndrome\/","title":{"rendered":"\u30d6\u30eb\u30fc\u30e0\uff08Bloom\uff09\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\uff08Bloom\u75c7\u5019\u7fa4\uff09\u306f\u3001BLM\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u6210\u9577\u969c\u5bb3\u3001\u7d2b\u5916\u7dda\u306b\u654f\u611f\u306a\u76ae\u819a\u3001\u514d\u75ab\u4e0d\u5168\u3001\u7cd6\u5c3f\u75c5\u30ea\u30b9\u30af\u3001\u305d\u3057\u3066\u82e5\u5e74\u6027\u304c\u3093\u306e\u767a\u75c7\u7387\u304c\u6975\u3081\u3066\u9ad8\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>BLM\uff5cBloom Syndrome<\/p>\n\n\n\n<p><sup>Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Bloom-Torre-Machacek Syndrome; Congenital Telangiectatic Erythema Syndrome<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\uff08Bloom Syndrome, BS\uff09\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u4f4e\u8eab\u9577\u3001\u5149\u7dda\u904e\u654f\u6027\u76ae\u819a\u75c5\u5909\u3001\u514d\u75ab\u4e0d\u5168\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u62b5\u6297\u6027\u3001\u304a\u3088\u3073\u591a\u767a\u6027\u764c\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306e\u5897\u52a0\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u4e3b\u306a\u539f\u56e0\u306fBLM\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308bRecQ DNA\u30d8\u30ea\u30ab\u30fc\u30bcBLM\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u3001\u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u6027\u3084\u30b2\u30ce\u30e0\u4e0d\u5b89\u5b9a\u6027\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u672c\u75be\u60a3\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\uff08\u7279\u306b\u59c9\u59b9\u67d3\u8272\u5206\u4f53\u4ea4\u63db\uff08SCE\uff09\u306e\u5897\u52a0\uff09\u3092\u7279\u5fb4\u3068\u3057\u3001\u65e9\u671f\u767a\u75c7\u306e\u764c\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u3044\u3002\u5f71\u97ff\u3092\u53d7\u3051\u305f\u7537\u6027\u306f\u4e00\u822c\u306b\u7121\u7cbe\u5b50\u75c7\u3067\u4e0d\u598a\u3067\u3042\u308a\u3001\u5973\u6027\u3082\u65e9\u671f\u9589\u7d4c\u3084\u751f\u6b96\u80fd\u529b\u306e\u4f4e\u4e0b\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u7279\u306b\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u96c6\u56e3\u3067\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u51fa\u751f\u6642\u306e\u6709\u75c5\u7387\u306f\u7279\u5b9a\u306e\u96c6\u56e3\u306b\u304a\u3044\u30661\/100,000\u301c1\/1,000,000\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002\u767a\u75c7\u306f\u80ce\u751f\u671f\u304b\u3089\u59cb\u307e\u308a\u3001\u65b0\u751f\u5150\u671f\u306b\u3082\u6210\u9577\u9045\u5ef6\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f2021\u5e74\u6642\u70b9\u3067300\u4f8b\u672a\u6e80\u3067\u3042\u308a\u3001\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u306e\u7279\u6027\u3092\u6301\u3064\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306fBLM\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306fRecQ\u30d8\u30ea\u30ab\u30fc\u30bc\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308bBLM\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001DNA\u4e8c\u91cd\u9396\u5207\u65ad\u306e\u4fee\u5fa9\u3001\u59c9\u59b9\u67d3\u8272\u5206\u4f53\u4ea4\u63db\uff08SCE\uff09\u306e\u6291\u5236\u3001\u30b2\u30ce\u30e0\u8907\u88fd\u30d5\u30a9\u30fc\u30af\u306e\u518d\u958b\u306a\u3069\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002BLM\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001DNA\u640d\u50b7\u5fdc\u7b54\u304c\u7570\u5e38\u306b\u306a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u5897\u52a0\u3059\u308b\u3002<\/p>\n\n\n\n<p>BLM\u30d8\u30ea\u30ab\u30fc\u30bc\u306f\u3001\u8907\u88fd\u30b9\u30c8\u30ec\u30b9\u5fdc\u7b54\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u7570\u5e38\u306aDNA\u4e8c\u6b21\u69cb\u9020\uff08G-\u56db\u91cd\u9396\u306a\u3069\uff09\u306e\u89e3\u6d88\u3084\u640d\u50b7DNA\u306e\u4fee\u5fa9\u306b\u95a2\u4e0e\u3059\u308b\u3002\u7279\u306b\u3001BLM\u306f\u30db\u30ea\u30c7\u30a4\u30b8\u30e3\u30f3\u30af\u30b7\u30e7\u30f3\u306e\u89e3\u6d88\u3092\u62c5\u3046BTR\u8907\u5408\u4f53\uff08BLM-TOP3A-RMI1-RMI2\uff09\u306e\u4e00\u90e8\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3001\u7570\u5e38\u306a\u7d44\u63db\u3048\u30a4\u30d9\u30f3\u30c8\u3092\u6291\u5236\u3059\u308b\u3002<\/p>\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\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u9045\u5ef6<\/strong>\uff1a\u51fa\u751f\u524d\u5f8c\u304b\u3089\u306e\u4f4e\u8eab\u9577\uff08\u6210\u4eba\u8eab\u9577\u304c150 cm\u672a\u6e80\uff09<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u7570\u5e38<\/strong>\uff1a\u65e5\u5149\u66dd\u9732\u5f8c\u306b\u73fe\u308c\u308b\u8776\u5f62\u7d05\u6591\u3001\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u3001\u8272\u7d20\u7570\u5e38\uff08\u8272\u7d20\u6c88\u7740\u307e\u305f\u306f\u8131\u8272\u7d20\uff09<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u7570\u5e38<\/strong>\uff1a\u9577\u7d30\u3044\u9854\u3001\u7a81\u51fa\u3057\u305f\u9f3b\u3001\u4f4e\u3044\u4e0b\u984e\u3001\u76ee\u7acb\u3064\u8033<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u4e0d\u5168<\/strong>\uff1a\u4e0a\u6c17\u9053\u611f\u67d3\u3001\u8033\u708e\u3001\u80ba\u708e\u306e\u53cd\u5fa9<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7570\u5e38<\/strong>\uff1a\u30a4\u30f3\u30b9\u30ea\u30f3\u62b5\u6297\u6027\u30012\u578b\u7cd6\u5c3f\u75c5\u306e\u30ea\u30b9\u30af\u5897\u52a0<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u7570\u5e38<\/strong>\uff1a\u7537\u6027\u306f\u7121\u7cbe\u5b50\u75c7\u306b\u3088\u308b\u4e0d\u598a\u3001\u5973\u6027\u306f\u65e9\u767a\u9589\u7d4c\u306b\u3088\u308b\u751f\u6b96\u80fd\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u764c\u306e\u767a\u75c7\u30ea\u30b9\u30af\u5897\u52a0<\/strong>\uff1a\u3042\u3089\u3086\u308b\u764c\u306e\u767a\u75c7\u7387\u304c\u4e00\u822c\u4eba\u53e3\u3088\u308a150\u301c300\u500d\u9ad8\u3044\uff08\u7279\u306b\u767d\u8840\u75c5\u3001\u6d88\u5316\u5668\u7cfb\u764c\u3001\u76ae\u819a\u764c\uff09<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u767a\u9054\u7570\u5e38<\/strong>\uff1a\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u5834\u5408\u304c\u3042\u308b<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u81e8\u5e8a\u75c7\u72b6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u691c\u51fa\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\u6210\u9577\u9045\u5ef6\u3001\u5149\u7dda\u904e\u654f\u6027\u76ae\u819a\u75c5\u5909\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306a\u3069\u306e\u89b3\u5bdf<\/li>\n\n\n\n<li><strong>\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u59c9\u59b9\u67d3\u8272\u5206\u4f53\u4ea4\u63db\uff08SCE\uff09\u306e\u5897\u52a0\uff08\u901a\u5e38\u306e10\u500d\u4ee5\u4e0a\uff09\u304c\u8a8d\u3081\u3089\u308c\u308b<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aBLM\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u691c\u51fa\uff08NGS\u307e\u305f\u306f\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308b\u89e3\u6790\uff09<\/li>\n\n\n\n<li><strong>\u8ffd\u52a0\u691c\u67fb<\/strong>\uff1a\u514d\u75ab\u6a5f\u80fd\u8a55\u4fa1\uff08IgG\u4f4e\u4e0b\u306a\u3069\uff09\u3001\u7cd6\u4ee3\u8b1d\u7570\u5e38\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u304c\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u7ba1\u7406<\/strong>\uff1a\u65e5\u713c\u3051\u6b62\u3081\u306e\u4f7f\u7528\u3001\u9577\u8896\u30fb\u5e3d\u5b50\u306e\u7740\u7528<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u7ba1\u7406<\/strong>\uff1a\u5b9a\u671f\u7684\u306a\u4e88\u9632\u63a5\u7a2e\u3001\u6297\u751f\u7269\u8cea\u306e\u9069\u6642\u6295\u4e0e<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7ba1\u7406<\/strong>\uff1a\u7cd6\u5c3f\u75c5\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u8840\u7cd6\u5024\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3068\u98df\u4e8b\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u764c\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\uff1a\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3001\u753b\u50cf\u8a3a\u65ad\uff08\u8d85\u97f3\u6ce2\u3001MRI\u3001\u5185\u8996\u93e1\uff09\u306b\u3088\u308b\u65e9\u671f\u767a\u898b<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u533b\u7642<\/strong>\uff1a\u751f\u6b96\u88dc\u52a9\u533b\u7642\u306e\u691c\u8a0e\uff08\u5973\u6027\u306e\u65e9\u671f\u9589\u7d4c\u306b\u5099\u3048\u305f\u5375\u5b50\u51cd\u7d50\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u60c5\u5831\u306e\u63d0\u4f9b\u3068\u30ea\u30b9\u30af\u8aac\u660e<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u5e73\u5747\u5bff\u547d\u306f25\u301c30\u6b73\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u6b7b\u56e0\u306f\u60aa\u6027\u816b\u760d\u3067\u3042\u308b\u3002\u764c\u306e\u767a\u75c7\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u3044\u305f\u3081\u3001\u65e9\u671f\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u514d\u75ab\u4e0d\u5168\u3084\u4ee3\u8b1d\u7570\u5e38\u306b\u5bfe\u3059\u308b\u7d99\u7d9a\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3082\u5fc5\u8981\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u30b2\u30ce\u30e0\u7de8\u96c6\u6280\u8853\u3084\u6a19\u7684\u6cbb\u7642\u306e\u9032\u5c55\u306b\u3088\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1111\/cge.14125\">G\u00f6nenc, I. I., Elcioglu, N. H., Martinez Grijalva, C., Aras, S., Gro\u00dfmann, N., Praulich, I., Altm\u00fcller, J., Kaulfu\u00df, S., Li, Y., N\u00fcrnberg, P., Burfeind, P., Yigit, G., &amp; Wollnik, B. (2022). Phenotypic spectrum of <em>BLM \u2010<\/em> and <em>RMI1<\/em> \u2010related Bloom syndrome. <em>Clinical Genetics<\/em>, <em>101<\/em>(5\u20136), 559\u2013564. https:\/\/doi.org\/10.1111\/cge.14125<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkab663\">Shastri, V. M., Subramanian, V., &amp; Schmidt, K. H. (2021). A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes. <em>Nucleic Acids Research<\/em>, <em>49<\/em>(15), 8699\u20138713. https:\/\/doi.org\/10.1093\/nar\/gkab663<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12185-024-03751-x\">Ohashi, T., Kunimoto, H., Nukui, J. <em>et al.<\/em> A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel <em>BLM<\/em> gene variant. <em>Int J Hematol<\/em> <strong>119<\/strong>, 603\u2013607 (2024). https:\/\/doi.org\/10.1007\/s12185-024-03751-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/cge.13859\">Backers, L., Parton, B., De Bruyne, M., Tavernier, S. J., Van Den Bogaert, K., Lambrecht, B. N., Haerynck, F., &amp; Claes, K. B. M. (2021). Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo\u2010exon activation in the <em>BLM<\/em> gene. <em>Clinical Genetics<\/em>, <em>99<\/em>(2), 292\u2013297. https:\/\/doi.org\/10.1111\/cge.13859<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2021.03.003\">Ababou, M. (2021). Bloom syndrome and the underlying causes of genetic instability. <em>Molecular Genetics and Metabolism<\/em>, <em>133<\/em>(1), 35\u201348. https:\/\/doi.org\/10.1016\/j.ymgme.2021.03.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-021-81075-0\">Subramanian, V., Rodemoyer, B., Shastri, V. <em>et al.<\/em> Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes. <em>Sci Rep<\/em> <strong>11<\/strong>, 2157 (2021). https:\/\/doi.org\/10.1038\/s41598-021-81075-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1126\/sciadv.abk0221\">Balbo Pogliano, C., Ceppi, I., Giovannini, S., Petroulaki, V., Palmer, N., Uliana, F., Gatti, M., Kasaciunaite, K., Freire, R., Seidel, R., Altmeyer, M., Cejka, P., &amp; Matos, J. (2022). The CDK1-TOPBP1-PLK1 axis regulates the Bloom\u2019s syndrome helicase BLM to suppress crossover recombination in somatic cells. <em>Science Advances<\/em>, <em>8<\/em>(5), eabk0221. https:\/\/doi.org\/10.1126\/sciadv.abk0221<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30d6\u30eb\u30fc\u30e0\u75c7\u5019\u7fa4, BLM\u907a\u4f1d\u5b50, \u907a\u4f1d\u6027\u75be\u60a3, \u6210\u9577\u969c\u5bb3, \u514d\u75ab\u4e0d\u5168, \u304c\u3093\u30ea\u30b9\u30af, \u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u75c7\u5019\u7fa4, DNA\u4fee\u5fa9, \u7d2b\u5916\u7dda\u904e\u654f, \u65e9\u671f\u767a\u898b, \u907a\u4f1d\u5b50\u8a3a\u65ad, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>, \u30db\u30ea\u30c7\u30a4\u30b8\u30e3\u30f3\u30af\u30b7\u30e7\u30f3, DNA\u30d8\u30ea\u30ab\u30fc\u30bc<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60343","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60343","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60343\/revisions"}],"predecessor-version":[{"id":128111,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60343\/revisions\/128111"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60343"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}