中文摘要：

目的：GJB2相关性耳聋患者主要为常染色体隐性遗传,对其导致的显性突变及综合征型聋报道较少,本研究总结分析中国感音神经性聋患者中GJB2基因显性遗传突变情况。方法：收集解放军总医院耳鼻喉研究所聋病分子诊断中心GJB2基因相关耳聋患者1 641例,回顾性分析其GJB2基因突变情况,总结显性遗传突变谱,进行相关听力、皮肤等相关表型的分析。结果：1 641例GJB2相关耳聋患者中9例为显性遗传（0.55%）,其中较常见的突变为R75W、G130V、R143Q、p.R184Q,听力表型主要为重度-极重度感音神经性聋。其中1例患者表现为感音神经性聋伴掌跖角化症。结论：GJB2显性遗传在中国耳聋患者中存在一定比例,综合征型较少见,其听力表型差异较大,但主要为重度-极重度感音神经性聋。

英文摘要：

Objective：Mutations in the GJB2 are the most common cause of nonsyndromic autosomalrecessive sensorineural hearing loss.A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss.This study analysised the GJB2 dominant mutation in Chinese deafness.Method：1641patients as GJB2-related hearing loss were enrolled,summarized the type of dominant mutaion,analyzed the hearing level and other systerm lesion.Result：Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation（R75W、G130V、R143Q、p.R184Q）.And one patient with R75 W mutation was diagosed as hearing loss and palmoplantar keratoderma.Conclusion：GJB2dominant mutation can cause severeto-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.