{"id":3492,"date":"2025-12-03T17:00:24","date_gmt":"2025-12-03T17:00:24","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=dc99c9cef3f954631440e44094dd731b"},"modified":"2026-02-20T12:16:58","modified_gmt":"2026-02-20T12:16:58","slug":"intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/03\/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"},"content":{"rendered":"\n<p>Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regions involving transcription factors <I>MAZ<\/I>, <I>FOXP1<\/I> and <I>SIN3B,<\/I> correspondingly, along with other genes, have been previously reported in individuals with neurodevelopmental and variable other features, including ocular coloboma and\/or microphthalmia; recently, intragenic variants in <I>FOXP1<\/I> and <I>SIN3B<\/I> have also been shown to cause neurodevelopmental phenotypes, with developmental eye defects reported in a small number of individuals with <I>FOXP1<\/I> variants. Through exome sequencing analysis we identified novel splicing variants in <I>MAZ<\/I> and <I>SIN3B,<\/I> and a recurrent nonsense allele in <I>FOXP1<\/I> in unrelated families affected with colobomatous microphthalmia, all with predicted loss-of-function effects; additionally, we report two new families with coloboma and 16p11.2 genomic deletions including <I>MAZ,<\/I> one de novo and another inherited from an affected parent. These findings provide further support for a role for <I>FOXP1<\/I> in structural eye phenotypes, expanding its spectrum to include colobomatous microphthalmia, and suggest a role for <I>MAZ<\/I> and <I>SIN3B<\/I> in human eye development and disease.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regions involvi&#8230;<\/p>\n","protected":false},"author":284,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[83],"class_list":["post-3492","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3492","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/284"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=3492"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3492\/revisions"}],"predecessor-version":[{"id":9970,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3492\/revisions\/9970"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=3492"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=3492"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=3492"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}