{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T11:59:46Z","timestamp":1781265586211,"version":"3.54.1"},"reference-count":71,"publisher":"BMJ","issue":"3","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY015518"],"award-info":[{"award-number":["R01 EY015518"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY034398"],"award-info":[{"award-number":["R01 EY034398"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,11,16]]},"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>MAZ<\/jats:italic>\n                    ,\n                    <jats:italic>FOXP1<\/jats:italic>\n                    and\n                    <jats:italic>SIN3B,<\/jats:italic>\n                    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\n                    <jats:italic>FOXP1<\/jats:italic>\n                    and\n                    <jats:italic>SIN3B<\/jats:italic>\n                    have also been shown to cause neurodevelopmental phenotypes, with developmental eye defects reported in a small number of individuals with\n                    <jats:italic>FOXP1<\/jats:italic>\n                    variants. Through exome sequencing analysis we identified novel splicing variants in\n                    <jats:italic>MAZ<\/jats:italic>\n                    and\n                    <jats:italic>SIN3B,<\/jats:italic>\n                    and a recurrent nonsense allele in\n                    <jats:italic>FOXP1<\/jats:italic>\n                    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\n                    <jats:italic>MAZ,<\/jats:italic>\n                    one de novo and another inherited from an affected parent. These findings provide further support for a role for\n                    <jats:italic>FOXP1<\/jats:italic>\n                    in structural eye phenotypes, expanding its spectrum to include colobomatous microphthalmia, and suggest a role for\n                    <jats:italic>MAZ<\/jats:italic>\n                    and\n                    <jats:italic>SIN3B<\/jats:italic>\n                    in human eye development and disease.\n                  <\/jats:p>","DOI":"10.1136\/jmg-2025-111125","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T18:20:44Z","timestamp":1764786044000},"page":"141-146","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Intragenic loss-of-function variants in transcription factors\n                    <i>MAZ<\/i>\n                    ,\n                    <i>FOXP1<\/i>\n                    and\n                    <i>SIN3B<\/i>\n                    in 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