Mutations in SLC26A4 Gene and Relevant Phenotype Analysis in Fifty-nine Cases of Enlargement of Vestibular Aqueduct(EVA)Syndrome Children in Guangdong District / 听力学及言语疾病杂志

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 .

The clinical application of gene chips combined with CT examination in the diagnosis of large vestibular aqueduct syndrome patients / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the feasibility and superiority of the gene chip method and temporal bone CT in diagnosis of large vestibular aqueduct syndrome.@*METHOD@#One hundred and eighty-eight cases of deaf students in Guangzhou were selected,the microarray detection of the SLC26A4 gene locus was performed,and the 26 cases of students with detected SLC26A4 gene mutations received temporal bone CT imaging.@*RESULT@#Among the detected 26 cases of patients with hearing loss, IVS7-2A>G homozygous mutation was found in 7 cases, 17 cases were heterozygous mutation, 2168A>G heterozygous mutation presented in three cases, including one case of IVS7-2A>G and 2168A>G compound heterozygous mutations. Temporal bone CT findings of 25 cases among the 26 patients showed bilateral large vestibular aqueduct,among which 9 cases exhibited bilateral cochlear malformations, and 1 case was normal.@*CONCLUSION@#Among the different SLC26A4 gene mutations, IVS7-2A>G point mutation rates the highest, followed by 2168A>G. Most of the CT examination prompted the expansion of the vestibular aqueduct. Deafness gene chip hotspot detection of SLC26A4 gene mutations can diagnose such patients before CT examination,which can be used for screening people with high risk of deafness prenatal screening. The early detection and early diagnosis can guide proper precautionary measures in advance to prevent the occurrence of prelingual deafness.