{"id":231,"date":"2011-11-27T03:41:23","date_gmt":"2011-11-27T03:41:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=231"},"modified":"2026-02-25T20:49:04","modified_gmt":"2026-02-25T20:49:04","slug":"identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/27\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\/","title":{"rendered":"Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya)"},"content":{"rendered":"

Split Hand and Foot Malformation (SHFM) is a birth defect characterized by claw-like appearance of hands and feet.\u00a0 Several genomic regions have been implicated in the causation of SHFM but SHFM1 is one of the most puzzling among these because despite its frequent involvement in genomic rearrangements, the compelling candidate genes DLX5\/DLX6 in that region have never been observed to harbor intragenic mutations.\u00a0 Shamseldin et al report a family with autosomal recessive SHFM that links to SHFM1 and identify an intragenic mutation in a critical domain in DLX5.\u00a0 This report not only settles the long debate surrounding SHFM1 by directly implicating DLX5 in the pathogenesis of SHFM but also unravels a previously unrecognized role for this gene in dorso-ventral patterning. (http:\/\/jmg.bmj.com\/content\/early\/2011\/11\/25\/jmedgenet-2011-100556.abstract?papetoc<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Split Hand and Foot Malformation (SHFM) is a birth defect characterized by claw-like appearance of hands and feet.\u00a0 Several genomic regions have been implicated in the causation of SHFM but SHFM1 is one of the most puzzling among these because despite its frequent involvement in genomic rearrangements, the compelling candidate genes DLX5\/DLX6 in that region […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-231","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nIdentification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/27\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Split Hand and Foot Malformation (SHFM) is a birth defect characterized by claw-like appearance of hands and feet.\u00a0 Several genomic regions have been implicated in the causation of SHFM but SHFM1 is one of the most puzzling among these because despite its frequent involvement in genomic rearrangements, the compelling candidate genes DLX5\/DLX6 in that region [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/11\/27\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-11-27T03:41:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:49:04+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya)\",\"datePublished\":\"2011-11-27T03:41:23+00:00\",\"dateModified\":\"2026-02-25T20:49:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/\"},\"wordCount\":154,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/11\\\/27\\\/identification-of-a-novel-dlx5-mutation-in-a-family-with-autosomal-recessive-split-hand-and-foot-malformation\\\/\",\"name\":\"Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation (Contributed by Dr. Fowzan S Alkuraya) - 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