{"id":1721,"date":"2022-04-01T14:21:28","date_gmt":"2022-04-01T14:21:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1721"},"modified":"2026-02-23T01:01:05","modified_gmt":"2026-02-23T01:01:05","slug":"heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/01\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\/","title":{"rendered":"Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of \u03b2-catenin for the disease (Contributed by Dr. Shujin Li)"},"content":{"rendered":"<p>Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with high clinical and genetical heterogeneity. Currently, variants in fourteen genes and one locus are associated with FEVR, which accounts for only approximately 50% of the cases. This study reports three heterozygous nonsense or frameshift variants in<em> CTNNB1<\/em> from FEVR-affected patients, which result in truncation and degradation of \u03b2-catenin. Knockdown of <em>CTNNB1<\/em> in primary human retinal microvascular endothelial cells leads to compromised cell proliferation and junctional integrity. Moreover, FEVR-like phenotypes are recapitulated in endothelial-specific heterozygous <em>Ctnnb1<\/em> knockout mouse models. Accordingly, LiCl treatment partially rescued the defects in both cell and mouse models. This study provides invaluable information for the genetic diagnosis and therapeutic avenues of FEVR. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/03\/31\/jmedgenet-2021-108259\">https:\/\/jmg.bmj.com\/content\/early\/2022\/03\/31\/jmedgenet-2021-108259<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/01\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\/fig-1-6\/\" rel=\"attachment wp-att-1722\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1722\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-235x300.jpg\" alt=\"\" width=\"235\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-235x300.jpg 235w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-801x1024.jpg 801w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-768x981.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-1202x1536.jpg 1202w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-1603x2048.jpg 1603w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-640x818.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-scaled.jpg 2004w\" sizes=\"auto, (max-width: 235px) 100vw, 235px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with high clinical and genetical heterogeneity. Currently, variants in fourteen genes and one locus are associated with FEVR, which accounts for only approximately 50% of the cases. This study reports three heterozygous nonsense or frameshift variants in CTNNB1 from FEVR-affected patients, which result in truncation and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/01\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\/\">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-1721","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>Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of \u03b2-catenin for the disease (Contributed by Dr. Shujin Li) - 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\/2022\/04\/01\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-\u03b2-catenin-for-the-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of \u03b2-catenin for the disease (Contributed by Dr. Shujin Li) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with high clinical and genetical heterogeneity. Currently, variants in fourteen genes and one locus are associated with FEVR, which accounts for only approximately 50% of the cases. This study reports three heterozygous nonsense or frameshift variants in CTNNB1 from FEVR-affected patients, which result in truncation and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/01\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-\u03b2-catenin-for-the-disease\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-04-01T14:21:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:01:05+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Fig-1-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2004\" \/>\n\t<meta property=\"og:image:height\" content=\"2560\" \/>\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\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of \u03b2-catenin for the disease (Contributed by Dr. Shujin Li)\",\"datePublished\":\"2022-04-01T14:21:28+00:00\",\"dateModified\":\"2026-02-23T01:01:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/\"},\"wordCount\":145,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/04\\\/Fig-1-235x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/01\\\/heterozygous-frameshift-ctnnb1-variants-identified-in-familial-exudative-vitreoretinopathy-affected-families-reveal-the-pathogenesis-of-%ce%b2-catenin-for-the-disease\\\/\",\"name\":\"Heterozygous frameshift CTNNB1 variants identified in familial exudative vitreoretinopathy-affected families reveal the pathogenesis of \u03b2-catenin for the disease (Contributed by Dr. Shujin Li) - 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Currently, variants in fourteen genes and one locus are associated with FEVR, which accounts for only approximately 50% of the cases. 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