SLC26A4基因与前庭导水管扩大综合征相关性研究

Study on the Correlation between SlC26A4 Gene and Large Vestibular Aqueduct Syndrome

近十年来的国内外研究证实,由SLC26A4基因突变引起的前庭导水管扩大是常见的致聋的先天性疾病。随着基因诊断技术的发展,越来越多的前庭导水管扩大病例被证实与SLC26A4基因突变有关。现就SLC26A4基因与前庭导水管扩大综合征相关性研究现状及其基因筛查的意义予以综述。

Researches in the last ten years show that the enlargement of vestibular aqueduct（ EVA） is a very common congenital disease leading to hearing loss caused by the mutations in SLC26A4 gene. More and more EVA patients have been identified to be related with SLC26A4 mutations,with the development of gene test. The correlations between SLC26A4 gene and EVA and gene test is summarized in this article.