{"id":2129,"date":"2025-12-09T14:17:18","date_gmt":"2025-12-09T14:17:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2129"},"modified":"2026-02-22T00:14:27","modified_gmt":"2026-02-22T00:14:27","slug":"intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/09\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\/","title":{"rendered":"Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina)"},"content":{"rendered":"<p>Ocular coloboma is a rare developmental eye disorder that can result in childhood blindness. Despite numerous genes\u00a0 being associated with coloboma, many cases are unexplained, suggesting novel genes remain to be discovered. One approach to gene identification is reviewing variants in genes located within known chromosomal deletions associated with structural eye defects. We thus identified predicted loss-of-function variants in <em>MAZ<\/em>, <em>FOXP1<\/em>, and <em>SIN3B<\/em> (involved in 16p11.2, 3p14, and 19p13.11 deletions, respectively) in families with colobomatous microphthalmia, along with two novel cases of 16p11.2 deletions. These findings represent potential phenotypic expansions for <em>FOXP1<\/em>\/<em>SIN3B<\/em>-related disease and a novel disease association for <em>MAZ<\/em>. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/03\/jmg-2025-111125\">https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/03\/jmg-2025-111125<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ocular coloboma is a rare developmental eye disorder that can result in childhood blindness. Despite numerous genes\u00a0 being associated with coloboma, many cases are unexplained, suggesting novel genes remain to be discovered. One approach to gene identification is reviewing variants in genes located within known chromosomal deletions associated with structural eye defects. We thus identified [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/09\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\/\">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-2129","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>Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina) - 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\/09\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ocular coloboma is a rare developmental eye disorder that can result in childhood blindness. Despite numerous genes\u00a0 being associated with coloboma, many cases are unexplained, suggesting novel genes remain to be discovered. One approach to gene identification is reviewing variants in genes located within known chromosomal deletions associated with structural eye defects. We thus identified [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/09\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-12-09T14:17:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:14:27+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\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina)\",\"datePublished\":\"2025-12-09T14:17:18+00:00\",\"dateModified\":\"2026-02-22T00:14:27+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/\"},\"wordCount\":130,\"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\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/09\\\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\\\/\",\"name\":\"Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous microphthalmia (Contributed by Dr. Elena Semina) - 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