[Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome]

Abstract

Objective:To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.Method:Genomic DNA samples were extracted from peripheral blood of the cochlear implant recipients associated with enlarged vestibular aqueduct syndrome. The SLC26A4 mutations were analyzed by direct sequencing.Result:A novel missense mutation(347G>A) of SLC26A4 gene was found in a male patient,which led to a substitution of codon 116 from glycine to asparagic acid. This mutation was not observed among 60 normal controls.Conclusion:The 347G>A of SLC26A4 gene was a novel pathologic mutation,contributing to the mutation spectrum of SLC26A4 of enlarged vestibular aqueduct syndrome.

Keywords: SLC26A4 gene; enlarged vestibular aqueduct syndrome; mutation; sequence analysis.