{"id":1883,"date":"2023-09-02T13:08:28","date_gmt":"2023-09-02T13:08:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1883"},"modified":"2026-02-22T23:57:15","modified_gmt":"2026-02-22T23:57:15","slug":"tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/","title":{"rendered":"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall)"},"content":{"rendered":"<p>TBX20 gene encodes a transcription factor that is essential for heart development. Recent experimental data implicate loss of TBX20 function in the development of left ventricular noncompaction cardiomyopathy (LVNC) but supporting clinical and genetic data in affected families is scarce. We report a series of four families with TBX20 loss-of-function variants that segregate with LVNC. This family data establishes a definitive association between TBX20 loss-of-function variants and LVNC and expands the TBX20 variant spectrum. Our results emphasize the importance of including TBX20 in genetic testing for LVNC to improve the diagnostic yield of genetic testing. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/01\/jmg-2023-109455\">https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/01\/jmg-2023-109455<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/untitled1\/\" rel=\"attachment wp-att-1884\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1884\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-300x252.jpg\" alt=\"\" width=\"300\" height=\"252\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-300x252.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-1024x861.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-768x646.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-640x538.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1.jpg 1221w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>TBX20 gene encodes a transcription factor that is essential for heart development. Recent experimental data implicate loss of TBX20 function in the development of left ventricular noncompaction cardiomyopathy (LVNC) but supporting clinical and genetic data in affected families is scarce. We report a series of four families with TBX20 loss-of-function variants that segregate with LVNC. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/\">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-1883","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>TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall) - 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\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"TBX20 gene encodes a transcription factor that is essential for heart development. Recent experimental data implicate loss of TBX20 function in the development of left ventricular noncompaction cardiomyopathy (LVNC) but supporting clinical and genetic data in affected families is scarce. We report a series of four families with TBX20 loss-of-function variants that segregate with LVNC. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-09-02T13:08:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:57:15+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1221\" \/>\n\t<meta property=\"og:image:height\" content=\"1027\" \/>\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\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall)\",\"datePublished\":\"2023-09-02T13:08:28+00:00\",\"dateModified\":\"2026-02-22T23:57:15+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/\"},\"wordCount\":119,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/09\\\/Untitled1-300x252.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/02\\\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\\\/\",\"name\":\"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall) - 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[...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/","og_site_name":"JMG Contact blog","article_published_time":"2023-09-02T13:08:28+00:00","article_modified_time":"2026-02-22T23:57:15+00:00","og_image":[{"width":1221,"height":1027,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1.jpg","type":"image\/jpeg"}],"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\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall)","datePublished":"2023-09-02T13:08:28+00:00","dateModified":"2026-02-22T23:57:15+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/"},"wordCount":119,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/Untitled1-300x252.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/","url":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/02\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/","name":"TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy (Contributed by Dr Richard D Bagnall) - 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