{"id":442,"date":"2013-01-13T02:10:54","date_gmt":"2013-01-13T02:10:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=442"},"modified":"2026-02-25T20:21:03","modified_gmt":"2026-02-25T20:21:03","slug":"heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/","title":{"rendered":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon)"},"content":{"rendered":"<p>Auriculocondylar syndrome (ACS) is characterised by an ear malformation known as a \u201cquestion mark ear\u201d and variable under-development of the lower jaw. Recently, mutations in two genes, <i>PLCB4<\/i> and <i>GNAI3<\/i>,were identified as the cause of ACS. We identified further mutations in these genes in a series of ACS patients, but not in patients with related craniofacial malformations. We identified a major hotspot of mutations affecting arginine 621 in PLCB4. In one patient we discovered a homozygous deletion within <i>PLCB4<\/i>, and in addition to ACS, he presented with central apnea, a disorder affecting central nervous system control of respiration, which has not been previously reported in ACS patients.Thus, our findings indicate that ACS can be an autosomal dominant or recessive condition according to the nature of the <i>PLCB4 <\/i>gene lesion and further emphasise the dominant negative effect of heterozygous missense mutations. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/11\/jmedgenet-2012-101331\">http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/11\/jmedgenet-2012-101331<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Auriculocondylar syndrome (ACS) is characterised by an ear malformation known as a \u201cquestion mark ear\u201d and variable under-development of the lower jaw. Recently, mutations in two genes, PLCB4 and GNAI3,were identified as the cause of ACS. We identified further mutations in these genes in a series of ACS patients, but not in patients with related [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/\">Read More&#8230;<\/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-442","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - 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\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Auriculocondylar syndrome (ACS) is characterised by an ear malformation known as a \u201cquestion mark ear\u201d and variable under-development of the lower jaw. Recently, mutations in two genes, PLCB4 and GNAI3,were identified as the cause of ACS. We identified further mutations in these genes in a series of ACS patients, but not in patients with related [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-01-13T02:10:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:21:03+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\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon)\",\"datePublished\":\"2013-01-13T02:10:54+00:00\",\"dateModified\":\"2026-02-25T20:21:03+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/\"},\"wordCount\":165,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/\",\"name\":\"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2013-01-13T02:10:54+00:00\",\"dateModified\":\"2026-02-25T20:21:03+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/13\\\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon)\"}]},{\"@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":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - 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\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - JMG Contact blog","og_description":"Auriculocondylar syndrome (ACS) is characterised by an ear malformation known as a \u201cquestion mark ear\u201d and variable under-development of the lower jaw. Recently, mutations in two genes, PLCB4 and GNAI3,were identified as the cause of ACS. We identified further mutations in these genes in a series of ACS patients, but not in patients with related [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2013-01-13T02:10:54+00:00","article_modified_time":"2026-02-25T20:21:03+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\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon)","datePublished":"2013-01-13T02:10:54+00:00","dateModified":"2026-02-25T20:21:03+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/"},"wordCount":165,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/","name":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-01-13T02:10:54+00:00","dateModified":"2026-02-25T20:21:03+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/13\/heterogeneity-of-mutational-mechanisms-and-modes-of-inheritance-in-auriculocondylar-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (Contributed by Dr. Chris Gordon)"}]},{"@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\/442","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=442"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/442\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=442"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=442"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=442"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}