大前庭水管综合征患者SLC26A4基因的新突变分析

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

目的:对大前庭水管综合征患者进行SLC26A4基因检测,探讨大前庭水管综合征SLC26A4基因突变谱。方法:对行人工耳蜗植入的大前庭水管综合征患者运用直接测序法进行SLC26A4基因的序列分析。结果:发现1例男性患儿携带SLC26A4基因的新突变:347G>A,该突变使得位于第116位的甘氨酸变成天冬氨酸,而60例听力正常的对照组未发现此种突变。结论:347G>A是新发现的大前庭水管综合征的致病突变。

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.