{"id":2132,"date":"2025-12-19T15:54:29","date_gmt":"2025-12-19T15:54:29","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2132"},"modified":"2026-02-22T00:13:48","modified_gmt":"2026-02-22T00:13:48","slug":"analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\/","title":{"rendered":"Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun)"},"content":{"rendered":"<p>Familial exudative vitreoretinopathy (FEVR) is a blinding disorder caused by abnormal development of retinal blood vessels. This study reanalyses whole genome sequence data from 59 individuals with FEVR in the UK 100,000 Genomes Project (100KGP). Bespoke analysis led to molecular diagnoses in 39%, almost doubling the diagnostic success of standard analyses. New cases solved include three with variants in <em>CTNND1<\/em>, a gene previously only tentatively implicated in FEVR, as well as novel structural and splicing variants in known FEVR genes. Three cases were also identified with pathogenic variants in genes implicated in other retinal disorders, suggesting these may be misdiagnosed. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/17\/jmg-2025-111083\">https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/17\/jmg-2025-111083<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familial exudative vitreoretinopathy (FEVR) is a blinding disorder caused by abnormal development of retinal blood vessels. This study reanalyses whole genome sequence data from 59 individuals with FEVR in the UK 100,000 Genomes Project (100KGP). Bespoke analysis led to molecular diagnoses in 39%, almost doubling the diagnostic success of standard analyses. New cases solved include [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\/\">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-2132","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>Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun) - 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\/2025\/12\/19\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Familial exudative vitreoretinopathy (FEVR) is a blinding disorder caused by abnormal development of retinal blood vessels. This study reanalyses whole genome sequence data from 59 individuals with FEVR in the UK 100,000 Genomes Project (100KGP). Bespoke analysis led to molecular diagnoses in 39%, almost doubling the diagnostic success of standard analyses. New cases solved include [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-12-19T15:54:29+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:13:48+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\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun)\",\"datePublished\":\"2025-12-19T15:54:29+00:00\",\"dateModified\":\"2026-02-22T00:13:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/\"},\"wordCount\":132,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\\\/\",\"name\":\"Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR (Contributed by Dr. Dong Sun) - 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