title: SOX2 anophthalmia syndrome and dental anomalies.
abstract: 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.
authors.affiliation: Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Oscar Francisco
authors.initials: OF
authors.lastname: Chacon-Camacho
authors.affiliation: Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Bertha Irene
authors.initials: BI
authors.lastname: Fuerte-Flores
authors.affiliation: Departamento de Genética Médica, UMAE, Hospital General "Dr. Gaudencio González Garza", Centro Médico Nacional La Raza, IMSS, Mexico City, Mexico.
authors.forename: Edgar F
authors.initials: EF
authors.lastname: Ricardez-Marcial
authors.affiliation: Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.|Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D002675:Child, Preschool; D004933:Esophageal Atresia / Q000150:complications* / Q000235:genetics; D006801:Humans; D007180:Incisor / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000150:complications* / Q000235:genetics; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications* / Q000235:genetics; D011859:Radiography; D055748:SOXB1 Transcription Factors / Q000235:genetics; D014071:Tooth Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors
keywords: SOX2; anophthalmia; congenital eye defects; dental anomalies; geminated tooth