{"id":959,"date":"2016-12-13T20:15:24","date_gmt":"2016-12-13T20:15:24","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=959"},"modified":"2016-12-13T20:15:24","modified_gmt":"2016-12-13T20:15:24","slug":"recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/12\/13\/recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix\/","title":{"rendered":"Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix"},"content":{"rendered":"<p>Progressive symmetric erythrokeratoderma (PSEK) is a genetic condition featured by the appearance of symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques developed over time. Previously mutation in two genes <em>LOR<\/em> and <em>GJB4<\/em> have been implicated with PSEK, while a locus for PSEK has been mapped to 21q11.2-q21.2. In this study we identified a homozygous frameshift deletion (c.811delA; p.Ser271fs) in <em>KRT83 <\/em>gene that leads to PSEK. Heterozygous missense substitutions in <em>KRT83<\/em> have been implicated in autosomal dominant monilethrix. Our study thus indicates that at least some cases of autosomal recessive PSEK and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the <em>KRT83<\/em> gene. (By Dr. Khadim Shah, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/12\/13\/jmedgenet-2016-104107\">http:\/\/jmg.bmj.com\/content\/early\/2016\/12\/13\/jmedgenet-2016-104107<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Progressive symmetric erythrokeratoderma (PSEK) is a genetic condition featured by the appearance of symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques developed over time. Previously mutation in two genes LOR and GJB4 have been implicated with PSEK, while a locus for PSEK has been mapped to 21q11.2-q21.2. In this study [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/12\/13\/recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-959","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/959","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=959"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/959\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=959"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=959"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=959"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}