A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.

Congenital anophthalmia is a rare eye anomaly which lacks a recognizable eye in the orbit. It can be isolated (nonsyndromic) or be observed as a sign of other diseases (syndromic). A Chinese infant was born with bilateral anophthalmia and palpebral fissure closures. Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intrinsic sequence of SOX2 were analysed by Sanger sequencing. A c.70_89del (p. Asn24ArgfsX65; rs398123693) mutation in SOX2 was identified in the Chinese infant with bilateral clinical anophthalmia and sensorineural hearing loss. Thismutation was not detected in the unaffected parents and 150 unaffected control individuals.Mutation in SOX2 is associated with bilateral clinical anophthalmia and probablywith other anomalies in the Chinese infant. Until nowhearing loss has not been reported in individuals with SOX2 mutation. The results remind us that clinical anophthalmia may be accompanied by sensorineural hearing loss and may be associated with SOX2 mutation, and it will contribute to improving diagnosis and patient care. Given that children with anophthalmia already have reduced sight, it seems worthwhile to make a point of careful vigilance on hearing for all such patients.