{"id":1528,"date":"2020-08-26T15:52:16","date_gmt":"2020-08-26T15:52:16","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1528"},"modified":"2026-02-23T23:48:40","modified_gmt":"2026-02-23T23:48:40","slug":"a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/","title":{"rendered":"A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur)"},"content":{"rendered":"<p>We report three siblings with neurodevelopmental delays from an Ashkenazi Jewish family with a homozygous variant (p.Ala2Gly) in\u00a0<em>TRAPPC2L<\/em>\u00a0gene, identified by whole genome sequencing. We previously reported another\u00a0<em>TRAPPC2L<\/em>\u00a0variant (p.Asp37Tyr) in two individuals with neurodevelopmental delay plus additional clinical findings.\u00a0<em>TRAPPC2L<\/em>\u00a0encodes a subunit of the conserved TRAPP complexes that functions in transport of vesicles between organelles. Interestingly, functional studies showed different effects of the two variants on\u00a0TRAPPC2L\u00a0protein\u2019s interaction with other TRAPP complex subunits, some of which are associated with\u00a0Mendelian\u00a0disorders that are now collectively called \u2018TRAPPopathies\u2019. Our report strengthens the genetic evidence for\u00a0<em>TRAPPC2L<\/em> causing a rare neurodevelopmental disorder with clinical variability and expands the existing knowledge on the TRAPP complex architecture. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/25\/jmedgenet-2020-107016\">https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/25\/jmedgenet-2020-107016<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/trappc2l-jmg-blog-figure\/\" rel=\"attachment wp-att-1529\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1529\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-282x300.jpg\" alt=\"\" width=\"282\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-282x300.jpg 282w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-962x1024.jpg 962w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-768x818.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-640x681.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure.jpg 1051w\" sizes=\"auto, (max-width: 282px) 100vw, 282px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We report three siblings with neurodevelopmental delays from an Ashkenazi Jewish family with a homozygous variant (p.Ala2Gly) in\u00a0TRAPPC2L\u00a0gene, identified by whole genome sequencing. We previously reported another\u00a0TRAPPC2L\u00a0variant (p.Asp37Tyr) in two individuals with neurodevelopmental delay plus additional clinical findings.\u00a0TRAPPC2L\u00a0encodes a subunit of the conserved TRAPP complexes that functions in transport of vesicles between organelles. Interestingly, functional [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/\">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-1528","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur) - 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\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We report three siblings with neurodevelopmental delays from an Ashkenazi Jewish family with a homozygous variant (p.Ala2Gly) in\u00a0TRAPPC2L\u00a0gene, identified by whole genome sequencing. We previously reported another\u00a0TRAPPC2L\u00a0variant (p.Asp37Tyr) in two individuals with neurodevelopmental delay plus additional clinical findings.\u00a0TRAPPC2L\u00a0encodes a subunit of the conserved TRAPP complexes that functions in transport of vesicles between organelles. 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Interestingly, functional [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/","og_site_name":"JMG Contact blog","article_published_time":"2020-08-26T15:52:16+00:00","article_modified_time":"2026-02-23T23:48:40+00:00","og_image":[{"width":1051,"height":1119,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure.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\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur)","datePublished":"2020-08-26T15:52:16+00:00","dateModified":"2026-02-23T23:48:40+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/"},"wordCount":162,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/TRAPPC2L-JMG-Blog-figure-282x300.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/a-novel-homozygous-variant-in-trappc2l-results-in-a-neurodevelopmental-disorder-and-disrupts-trapp-complex-function\/","name":"A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function (Contributed by Dr. Mythily Ganapathi and Dr. Volkan Okur) - 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