ABSTRACT
Objective The molecular etiology of hearing impairment in Guangdong District has not been thor-oughly investigated.SCL26A4 gene mutation and relevant phenotype were analyzed in this study.Methods The coding exons of SLC26A4 were analyzed in 59 EVA cases.Those SLC26A4 gene mutations patients were examined by temporal bone CT.Results Fifty-nine cases were SLC26A4 mutations deafness patients,and 21 cases (35. 59%)and 38 cases (64.41%)patients with SLC26A4 biallelic allele (compound homozygous or heterozygous)and monoallelic gene mutation,including 16 cases of SLC26A4 gene IVS7-2 A> G homozygous mutations,2 cases of 2168A>G homozygous mutations and 3 cases of IVS7-2A>G,2168 A > G compound heterozygous mutations in children with CT showing bilateral enlarged vestibular aqueduct or other types of inner ear malformations.Thirty-one patients were IVS7-2A>G heterozygous for SLC26A4 mutation and seven 2168 A > G heterozygous muta-tion.Four patients with SLC26A4 gene mutations were confirmed to have enlarged vestibular aqueduct with Mondini dysplasia.Two patients with normal phenotype ,and others were enlarged vestibular aqueduct.Conclusion Muta-tions in the SLC26A4 gene with enlarged vestibular aqueduct patients were frequently found in Guangdong District.IVS7-2A>G mutations rate were highest,followed by 2168 A > G.We established the new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to find enlarged vestibular aqueduct and inner ear malforma-tion patients .