GJB2基因突变在遗传性非综合征性耳聋中的研究进展

遗传性耳聋可分为综合征性耳聋和非综合征性耳聋。在我国GJB2基因突变是最重要的导致遗传性耳聋的因素之一。在常染色体隐性遗传的非综合征性耳聋中,有50%的患者存在GJB2基因突变。在不同种族中GJB2基因的突变位点不同,中国人以235delC突变最常见,其次为299～300delAT、176del 16bp和35delG。目前发现GJB2基因突变不但可引起遗传性耳聋,还可引起获得性耳聋。现就GJB2基因突变致非综合征性耳聋的相关发病机制、临床表型及检测方法等最新研究进展予以综述。

Recent Research Progresses of GJB2 Gene Mutations on Hereditary Nonsyndromic Hearing Loss

Hereditary deafness can be divided into syndromic hearing loss and nonsyndromic hearing loss.GJB2 mutation is one of the most important factors causing hereditary deafness in China.Up to 50% of autosomal recessive nonsyndromic hearing loss are accounted for mutations in the GJB2 gene.In different ethnic groups,the mutational sites of GJB2 gene are different.The most common mutational site is 235delC,followed by 299-300delAT,176del 16bp and 35delG in China.At present it′s discovered that mutations of GJB2 gene can cause not only congenital deafness,but also acquired deafness.Here is to make a review on recent progresses of pathogenesis,clinical phenotype,and detection methods of nonsyndromic hearing loss caused by GJB2 gene mutations.