{"id":397,"date":"2012-10-25T18:58:59","date_gmt":"2012-10-25T18:58:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=397"},"modified":"2026-02-25T20:28:04","modified_gmt":"2026-02-25T20:28:04","slug":"exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/","title":{"rendered":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang)"},"content":{"rendered":"

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3<\/em> as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed light on the importance of the EGF pathway for normal hair growth and function. Further biological studies of EPS8L3<\/em> would throw new insights into the genetic etiology and pathophysiology of MUHH. (http:\/\/jmg.bmj.com\/content\/early\/2012\/10\/24\/jmedgenet-2012-101134<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3 as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed […]<\/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-397","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nExome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - 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\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3 as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-10-25T18:58:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:28:04+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\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang)\",\"datePublished\":\"2012-10-25T18:58:59+00:00\",\"dateModified\":\"2026-02-25T20:28:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/\"},\"wordCount\":115,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/\",\"name\":\"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2012-10-25T18:58:59+00:00\",\"dateModified\":\"2026-02-25T20:28:04+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/25\\\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/","og_locale":"en_US","og_type":"article","og_title":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - JMG Contact blog","og_description":"Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3 as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/","og_site_name":"JMG Contact blog","article_published_time":"2012-10-25T18:58:59+00:00","article_modified_time":"2026-02-25T20:28:04+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang)","datePublished":"2012-10-25T18:58:59+00:00","dateModified":"2026-02-25T20:28:04+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/"},"wordCount":115,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/","url":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/","name":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2012-10-25T18:58:59+00:00","dateModified":"2026-02-25T20:28:04+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/25\/exome-sequencing-identified-a-missense-mutation-of-eps8l3-in-marie-unna-hereditary-hypotrichosis\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis (Contributed by Dr. Xuejun Zhang)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/397","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=397"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/397\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=397"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=397"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=397"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}