{"id":136643,"date":"2026-09-08T12:22:55","date_gmt":"2026-09-08T03:22:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136643"},"modified":"2026-09-08T12:22:55","modified_gmt":"2026-09-08T03:22:55","slug":"ichthyosis-congenital-autosomal-recessive-4a-abca12","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ichthyosis-congenital-autosomal-recessive-4a-abca12\/","title":{"rendered":"\u5148\u5929\u6027\u9b5a\u9c57\u766c \u5e38\u67d3\u8272\u4f53\u6f5c\u60274A\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u9b5a\u9c57\u766c \u5e38\u67d3\u8272\u4f53\u6f5c\u60274A\u578b\uff08Ichthyosis, congenital, autosomal recessive 4A\u30fbARCI4A\uff09\u306f\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u5168\u8eab\u306e\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3001\u3046\u308d\u3053\u72b6\u306e\u539a\u3044\u89d2\u8cea\uff08\u9c57\u5c51\uff09\u3067\u304a\u304a\u308f\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u8d64\u3061\u3083\u3093\u306f\u3001\u5168\u8eab\u304c\u900f\u660e\u306a\u819c\u306b\u3064\u3064\u307e\u308c\u305f\u300c\u30b3\u30ed\u30b8\u30aa\u30f3\u5150\u300d\u306e\u72b6\u614b\u3067\u751f\u307e\u308c\u307e\u3059\u3002\u305d\u306e\u819c\u304c\u6570\u9031\u9593\u304b\u3051\u3066\u306f\u304c\u308c\u305f\u3042\u3068\u306b\u3001\u677f\u306e\u3088\u3046\u306a\u9c57\u5c51\u304c\u73fe\u308c\u307e\u3059\u3002\u76ae\u819a\u306e\u3046\u308b\u304a\u3044\u3092\u4fdd\u3064\u624b\u5165\u308c\u3092\u7d9a\u3051\u308c\u3070\u3001\u6210\u9577\u3084\u767a\u9054\u305d\u306e\u3082\u306e\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u306f\u591a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>ABCA12<\/strong> 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class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3001\u5927\u304d\u306a\u677f\u72b6\u306e\u9c57\u5c51\u3067\u304a\u304a\u308f\u308c\u308b<\/li>\n\n\n\n<li>\u76ae\u819a\u304c\u8d64\u307f\u3092\u304a\u3073\u308b\uff08\u7d05\u76ae\u75c7\uff09<\/li>\n\n\n\n<li>\u307e\u3076\u305f\u3084\u5507\u304c\u5916\u5074\u306b\u3081\u304f\u308c\u308b\uff08\u773c\u77bc\u5916\u53cd\u30fb\u53e3\u5507\u5916\u53cd\uff09<\/li>\n\n\n\n<li>\u624b\u306e\u3072\u3089\u30fb\u8db3\u306e\u88cf\u306e\u89d2\u8cea\u304c\u539a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u6c57\u3092\u304b\u304d\u306b\u304f\u304f\u3001\u4f53\u6e29\u304c\u4e0a\u304c\u308a\u3084\u3059\u3044<\/li>\n\n\n\n<li>\u76ae\u819a\u304b\u3089\u6c34\u5206\u304c\u5931\u308f\u308c\u3084\u3059\u304f\u3001\u8131\u6c34\u3092\u8d77\u3053\u3057\u3084\u3059\u3044<\/li>\n\n\n\n<li>\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u304c\u5f31\u3044\u305f\u3081\u3001\u611f\u67d3\u3092\u8d77\u3053\u3057\u3084\u3059\u3044<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u76ae\u819a\u306e\u898b\u305f\u76ee\u3068\u751f\u307e\u308c\u3066\u304b\u3089\u306e\u7d4c\u904e\u3092\u3082\u3068\u306b\u8a3a\u65ad\u3092\u9032\u3081\u3001\u76ae\u819a\u306e\u4e00\u90e8\u3092\u63a1\u3063\u3066\u8abf\u3079\u308b\u76ae\u819a\u751f\u691c\u3084\u3001<strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002\u9b5a\u9c57\u766c\u306b\u306f\u3044\u304f\u3064\u3082\u306e\u578b\u304c\u3042\u308a\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u306f\u533a\u5225\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u306f\u3063\u304d\u308a\u3057\u305f\u8a3a\u65ad\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u539f\u56e0\u305d\u306e\u3082\u306e\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u76ae\u819a\u306e\u3046\u308b\u304a\u3044\u3092\u4fdd\u3061\u3001\u539a\u304f\u306a\u3063\u305f\u89d2\u8cea\u3092\u3084\u308f\u3089\u3052\u308b\u624b\u5165\u308c\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4fdd\u6e7f\u5264\uff08\u767d\u8272\u30ef\u30bb\u30ea\u30f3\u3001\u5c3f\u7d20\u88fd\u5264\u306a\u3069\uff09\u3092\u6bce\u65e5\u305f\u3063\u3077\u308a\u5857\u308b<\/li>\n\n\n\n<li>\u89d2\u8cea\u3092\u3084\u308f\u3089\u3052\u308b\u5916\u7528\u85ac\uff08\u30b5\u30ea\u30c1\u30eb\u9178\u3001\u4e73\u9178\u306a\u3069\uff09\u3092\u4f7f\u3046<\/li>\n\n\n\n<li>\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408\u306f\u3001\u30ec\u30c1\u30ce\u30a4\u30c9\uff08\u30d3\u30bf\u30df\u30f3A\u8a98\u5c0e\u4f53\uff09\u306e\u5185\u670d\u3092\u691c\u8a0e\u3059\u308b<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306f\u4fdd\u80b2\u5668\u3067\u4f53\u6e29\u3068\u6c34\u5206\u3092\u4fdd\u3061\u3001\u611f\u67d3\u3092\u9632\u3050<\/li>\n\n\n\n<li>\u773c\u77bc\u5916\u53cd\u306b\u3088\u308b\u89d2\u819c\u306e\u4e7e\u71e5\u306b\u3064\u3044\u3066\u3001\u773c\u79d1\u3067\u6cbb\u7642\u3092\u53d7\u3051\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>ARCI4A\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08autosomal recessive congenital ichthyosis, ARCI\uff09\u306e\u3046\u3061 <strong>ABCA12<\/strong>\uff082q35\uff09\u3092\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u3059\u308b\u4e00\u7fa4\u3067\u3001\u81e8\u5e8a\u578b\u3068\u3057\u3066\u306f\u8449\u72b6\u9b5a\u9c57\u766c\uff08lamellar ichthyosis\uff09\u304a\u3088\u3073\u5148\u5929\u6027\u9b5a\u9c57\u766c\u69d8\u7d05\u76ae\u75c7\uff08congenital ichthyosiform erythroderma\uff09\u306e\u8868\u73fe\u578b\u3092\u3068\u308b\u3002<\/p>\n\n\n\n<p>ABCA12\u306fATP\u7d50\u5408\u30ab\u30bb\u30c3\u30c8\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fcA\u30b5\u30d6\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3001\u9846\u7c92\u5c64\u306e\u30b1\u30e9\u30c1\u30ce\u30b5\u30a4\u30c8\u306b\u304a\u3044\u3066\u5c64\u677f\u9846\u7c92\uff08lamellar granule\uff09\u3078\u306e\u30b0\u30eb\u30b3\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u306e\u8f38\u9001\u3092\u62c5\u3046\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u89d2\u5c64\u7d30\u80de\u9593\u8102\u8cea\u30e9\u30e1\u30e9\u306e\u5f62\u6210\u304c\u969c\u5bb3\u3055\u308c\u3001\u900f\u904e\u30d0\u30ea\u30a2\u6a5f\u80fd\u304c\u7834\u7dbb\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u540c\u3058ABCA12\u306e\u5909\u7570\u3067\u3082\u3001\u6a5f\u80fd\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306a\u3069\uff09\u3067\u306f\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\uff08ARCI4B\uff09\u3092\u3001ATP\u7d50\u5408\u30ab\u30bb\u30c3\u30c8\u30c9\u30e1\u30a4\u30f3\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306a\u3069\u6b8b\u5b58\u6a5f\u80fd\u304c\u3042\u308b\u5834\u5408\u306b\u306fARCI4A\u306e\u8868\u73fe\u578b\u3092\u3068\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u3001TGM1\uff08ARCI1\uff09\u3001ALOX12B\u30fbALOXE3\uff08ARCI2\u30fb3\uff09\u3001NIPAL4\u3001CYP4F22\u3001CERS3 \u306a\u3069\u306b\u3088\u308bARCI\u306e\u307b\u304b\u3001\u75c7\u5019\u6027\u9b5a\u9c57\u766c\uff08\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4\u3001\u30cd\u30b6\u30fc\u30c8\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3092\u8003\u616e\u3059\u308b\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u6709\u7528\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002\u3054\u4e21\u89aa\u81ea\u8eab\u306b\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3067\u304d\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b <strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u3042\u308a\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09\u3067\u5909\u5316\u3092\u691c\u51fa\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u4e8b\u524d\u306b\u8abf\u3079\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4e0a\u306e\u5b50\u304c\u3053\u306e\u75c5\u6c17\u3067\u3059\u3002\u6b21\u306e\u5b50\u3082\u540c\u3058\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u305f\u304b\u3069\u3046\u304b\u3067\u3001\u6b21\u306e\u78ba\u7387\u304c\u5909\u308f\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5fc3\u914d\u306a\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u3054\u5229\u7528\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u3084\u77e5\u80fd\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u77e5\u80fd\u306e\u767a\u9054\u3084\u5bff\u547d\u306b\u76f4\u63a5\u5f71\u97ff\u3059\u308b\u3053\u3068\u306f\u591a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u76ae\u819a\u306e\u624b\u5165\u308c\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b8c\u6cbb\u3059\u308b\u6cbb\u7642\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u73fe\u6642\u70b9\u3067\u539f\u56e0\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u4fdd\u6e7f\u3068\u89d2\u8cea\u3092\u3084\u308f\u3089\u3052\u308b\u624b\u5165\u308c\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. <em>J Clin Invest<\/em>. 2005;115(7):1777-1784.<\/li>\n\n\n\n<li>Lef\u00e8vre C, Audebert S, Jobard F, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. <em>Hum Mol Genet<\/em>. 2003;12(18):2369-2378.<\/li>\n\n\n\n<li>Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype\/phenotype correlations and of pathogenetic concepts. <em>Hum Mutat<\/em>. 2010;31(10):1090-1096.<\/li>\n\n\n\n<li>Richard G, Ringpfeil F. Ichthyoses. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>OMIM #601277 Ichthyosis, congenital, autosomal recessive 4A<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136643","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\/136643","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136643\/revisions"}],"predecessor-version":[{"id":136653,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136643\/revisions\/136653"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136643"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}