已知所有的常染色体隐性非综合征性耳聋 (ARNSHL)基因可致重度或极重度学语前耳聋 ,目前已有 32个 ARN-SHL 基因 ,通过对单一的有血缘关系的家系分析而定位。其中编码缝隙连接蛋白 2 6的 Connexin2 6 (Cx2 6 )基因突变与 ARN-SHL 关系最为密切。同时 Cx2 6基因突变也是 DFNA3/ DFNB1的遗传基础。有关 Cx2 6基因突变及其产生异常缝隙连接蛋白在听觉功能中的作用尚不清楚 ,本文综合目前对 Cx2 6基因的突变及其产生缝隙连接蛋白在遗传性耳聋中的发病机制中的研究资料作一简要论述 All ARNSHL genes are known to cause severe or very severe pre-school deafness and 32 ARN-SHL genes are currently known, which are mapped by a single, family-based pedigree . Among them, the Connexin2 6 (Cx2 6) gene mutation that codes for the gap junction protein 26 has the closest relationship with ARN-SHL. At the same time Cx2 6 gene mutation is also the genetic basis of DFNA3 / DFNB1. The role of Cx26 mutation and its role in abnormal function of hearing and hearing in connective tissue is unclear. This review summarizes current research on mutations in Cx2 6 gene and the pathogenesis of it in genetically deafness A brief discussion