{"id":1934,"date":"2024-02-01T14:31:07","date_gmt":"2024-02-01T14:31:07","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1934"},"modified":"2026-02-22T23:23:55","modified_gmt":"2026-02-22T23:23:55","slug":"molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/01\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\/","title":{"rendered":"Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng)"},"content":{"rendered":"<p>Townes-Brocks Syndrome (TBS) is a rare hereditary disorder marked by congenital malformations, posing diagnostic challenges due to its phenotypic heterogeneity. Our nationwide cohort study, encompassing 20,666 individuals with hearing impairment in mainland China, explored the correlation between TBS and variations of <em>SALL1 <\/em>and <em>DACT1<\/em>. The study revealed five novel variations in <em>SALL1<\/em>, alongside two known ones. Additionally, through comprehensive clinical evaluation of a TBS family, we affirmed links between TBS and specific endocrine abnormalities. These findings deepened our understanding of TBS&#8217;s phenotypic-genotypic spectrum. Notably, molecular diagnostics in atypical TBS cases highlighted an underestimated prevalence. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/30\/jmg-2023-109579\">https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/30\/jmg-2023-109579<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/01\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\/untitled-71\/\" rel=\"attachment wp-att-1935\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1935\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled-291x300.jpg\" alt=\"\" width=\"291\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled-291x300.jpg 291w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled-768x792.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled-640x660.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled.jpg 865w\" sizes=\"auto, (max-width: 291px) 100vw, 291px\" \/><\/a><\/p>\n<p>Pedigree, genetic data and clinical pictures of (a) typical and (b) atypical TBS families identified from CDGC cohort. Black arrows, probands. Grey blocks, suspected presentation of phenotypes. White arrow, membranous atresia of external acoustic meatus of the right ear of F1-III:1.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Townes-Brocks Syndrome (TBS) is a rare hereditary disorder marked by congenital malformations, posing diagnostic challenges due to its phenotypic heterogeneity. Our nationwide cohort study, encompassing 20,666 individuals with hearing impairment in mainland China, explored the correlation between TBS and variations of SALL1 and DACT1. The study revealed five novel variations in SALL1, alongside two known [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/01\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\/\">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-1934","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng) - 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\/2024\/02\/01\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Townes-Brocks Syndrome (TBS) is a rare hereditary disorder marked by congenital malformations, posing diagnostic challenges due to its phenotypic heterogeneity. Our nationwide cohort study, encompassing 20,666 individuals with hearing impairment in mainland China, explored the correlation between TBS and variations of SALL1 and DACT1. The study revealed five novel variations in SALL1, alongside two known [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/01\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-02-01T14:31:07+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:23:55+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"865\" \/>\n\t<meta property=\"og:image:height\" content=\"892\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng)\",\"datePublished\":\"2024-02-01T14:31:07+00:00\",\"dateModified\":\"2026-02-22T23:23:55+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/\"},\"wordCount\":167,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2024\\\/02\\\/Untitled-291x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/02\\\/01\\\/molecular-diagnosis-clinical-evaluation-and-phenotypic-spectrum-of-townes-brocks-syndrome-insights-from-a-large-chinese-hearing-loss-cohort\\\/\",\"name\":\"Molecular Diagnosis, Clinical Evaluation, and Phenotypic Spectrum of Townes-Brocks Syndrome: Insights from a large Chinese hearing loss Cohort (Contributed by Dr Jing Cheng) - 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