前庭导水管扩大患者SLC26A4单等位基因突变研究

前庭导水管扩大（enlarged vestibular aqueduct，EVA）多为常染色体隐性遗传。研究表明SLC26A4基因突变是导致EVA的主要致病因素，有的EVA患者即使进行SLC26A4基因测序也未能发现双等位基因突变，对于只携带一个突变位点的患者该如何解析呢？为明确SLC26A4单等位基因突变EVA的致病因素，国内外学者开展了大量研究，提示EVA是一种复杂的疾病，涉及SLC26A4、FOXI1和KCNJ10等多个遗传基因。此外，还有可能与环境因素共同致病。本文就EVA患者SLC26A4单等位基因突变的研究进展进行综述。

Research progress of SLC26A4 Mono-allelic mutation in deaf patients with enlarged vestibular ;aqueduct

Enlargement of the vestibular aqueduct (EVA) is generally inherited in an autosomal recessive manner. Although mutations in the SLC26A4 gene are known to be responsible for EVA, screening of SLC26A4 fails to identify two allele mutations in many patients with an EVA phenotype. For patients with only one mutation, how to resolve it? A large number of studies have been carried out to identify the pathogenic factors of EVA patients with SLC26A4 mono-allelic mutation. The results suggest that EVA is a complex disease, involving SLC26A4, FOXI1 and KCNJ10 genes and environmental factors. The research progress of SLC26A4 mono-allelic mutation in deaf patients with enlarged vestibular aqueduct is summarized in this article.