SOX2 anophthalmia syndrome and dental anomalies

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 t...

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Bibliographic Details
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
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37277