SOX2 anophthalmia syndrome and dental anomalies

• Published in: American journal of medical genetics. Part A 2015-11, Vol.167A (11), p.2830-2833
• Main Authors: Chacon-Camacho, Oscar Francisco, Fuerte-Flores, Bertha Irene, Ricardez-Marcial, Edgar F., Zenteno, Juan Carlos
• Format: Article
• Language: English
• Subjects: anophthalmia; Child, Preschool; congenital eye defects; dental anomalies; Esophageal Atresia - complications; Esophageal Atresia - genetics; geminated tooth; Humans; Incisor - diagnostic imaging; Infant, Newborn; Male; Microphthalmos - complications; Microphthalmos - genetics; Mutation; Nervous System Malformations - complications; Nervous System Malformations - genetics; Radiography; SOX2; SOXB1 Transcription Factors - genetics; Tooth Abnormalities - complications; Tooth Abnormalities - diagnostic imaging; Tooth Abnormalities - genetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.37277

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations. © 2015 Wiley Periodicals, Inc.