摘要
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。
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 eth- nic groups, the mutational sites of GJB2 gene are different. The most common mutational site is 235 delC, fol- lowed 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 nonsyndremic hearing loss caused by GJB2 gene mutations.
出处
《医学综述》
2012年第17期2774-2777,共4页
Medical Recapitulate
