{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Seese SE"],"funding":["NEI NIH HHS"],"pubmed_abstract":["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."],"journal":["Journal of medical genetics"],"pagination":["jmg-2025-111125"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12851817"],"repository":["biostudies-literature"],"pubmed_title":["Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmia."],"pmcid":["PMC12851817"],"funding_grant_id":["R01 EY034398","R01 EY015518"],"pubmed_authors":["Reis LM","Semina EV","Schneider A","Bardakjian T","Seese SE"],"additional_accession":[]},"is_claimable":false,"name":"Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmia.","description":"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.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-09T07:25:06.507Z","creation":"2026-06-09T03:12:11.137Z"},"accession":"S-EPMC12851817","cross_references":{"pubmed":["41339071"],"doi":["10.1136/jmg-2025-111125"]}}