{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T08:03:24Z","timestamp":1793088204040,"version":"4.5.0"},"reference-count":50,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,11,18]],"date-time":"2018-11-18T00:00:00Z","timestamp":1542499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Asociacion Para Evitar la Ceguera en Mexico"},{"name":"Roberts Collaborative"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>SOX2 is a transcription factor that is essential for maintenance of pluripotency and has several conserved roles in early embryonic development. Heterozygous loss\u2010of\u2010function variants in <jats:italic>SOX2<\/jats:italic> are identified in approximately 40% of all cases of bilateral anophthalmia\/micropthalmia (A\/M). Increasingly <jats:italic>SOX2<\/jats:italic> mutation\u2010positive patients without major eye findings, but with a range of other developmental disorders including autism, mild to moderate intellectual disability with or without structural brain changes, esophageal atresia, urogenital anomalies, and endocrinopathy are being reported, suggesting that the clinical phenotype associated with <jats:italic>SOX2<\/jats:italic> loss is much broader than previously appreciated. In this report we describe six new cases, four of which carry novel pathogenic <jats:italic>SOX2<\/jats:italic> variants. Four cases presented with bilateral anophthalmia in addition to extraocular involvement. Another individual presented with only unilateral anophthalmia. One individual did not have any eye findings but presented with a suprasellar teratoma in infancy and was found to have the recurrent c.70del20 mutation in <jats:italic>SOX2<\/jats:italic> (c.70_89del, p.Asn24Argfs*65). This is this first time this tumor type has been reported in the context of a de novo <jats:italic>SOX2<\/jats:italic> mutation. Notably, individuals with hypothalamic hamartomas and slow\u2010growing hypothalamo\u2010pituitary tumors have been reported previously, but it is still unclear how <jats:italic>SOX2<\/jats:italic> loss contributes to their formation.<\/jats:p>","DOI":"10.1002\/ajmg.a.40644","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T05:24:48Z","timestamp":1542605088000},"page":"2710-2719","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Extension of the mutational and clinical spectrum of <i>SOX2<\/i> related disorders: Description of six new cases and a novel association with suprasellar teratoma"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-1275","authenticated-orcid":false,"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester 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