{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:19:38Z","timestamp":1790194778081,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,11,16]],"date-time":"2009-11-16T00:00:00Z","timestamp":1258329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SOX2<\/jats:italic> represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in <jats:italic>SOX2<\/jats:italic> are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia\/microphthalmia (A\/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A\/M and identified <jats:italic>SOX2<\/jats:italic> mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals carry the previously reported recurrent 20\u2010nucleotide deletion in <jats:italic>SOX2<\/jats:italic>, c.70del20. Among the <jats:italic>SOX2<\/jats:italic>\u2010positive cases, seven patients had bilateral A\/M and mutations resulting in premature termination of the normal protein sequence (7\/38; 18% of all bilateral cases), one patient had bilateral A\/M associated with a single amino acid insertion (1\/38; 3% of bilateral cases), and the final two patients demonstrated unilateral A\/M associated with missense mutations (2\/13; 15% of all unilateral cases). These findings and review of previously reported cases suggest a potential genotype\/phenotype correlation for <jats:italic>SOX2<\/jats:italic> mutations with missense changes generally leading to less severe ocular defects. In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified <jats:italic>SOX2<\/jats:italic> mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33098","type":"journal-article","created":{"date-parts":[[2009,11,17]],"date-time":"2009-11-17T01:51:14Z","timestamp":1258422674000},"page":"2706-2715","source":"Crossref","is-referenced-by-count":100,"title":["Novel <i>SOX2<\/i> mutations and genotype\u2013phenotype correlation in anophthalmia and microphthalmia"],"prefix":"10.1002","volume":"149A","author":[{"given":"Adele","family":"Schneider","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Bardakjian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda 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