To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.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.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.The 347G>A of SLC26A4 gene was a novel pathologic mutation,contributing to the mutation spectrum of SLC26A4 of enlarged vestibular aqueduct syndrome.
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| http://dx.doi.org/10.13201/j.issn.1001-1781.2017.09.011 | DOI Listing |
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