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

Abstract

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. Key words: Vestibular Diseases; Alleles; Mutation; enlarged vestibular aqueduct