Bazazzadegan Niloofar, Nikzat Nooshin, Fattahi Zohreh, Nishimura Carla, Meyer Nicole, Sahraian Shima, Jamali Payman, Babanejad Mojgan, Kashef Atie, Yazdan Hilda, Sabbagh Kermani Farahnaz, Taghdiri Maryam, Azadeh Batool, Mojahedi Faezeh, Khoshaeen Atefeh, Habibi Haleh, Reyhanifar Farahnaz, Nouri Narges, Smith Richard J H, Kahrizi Kimia, Najmabadi Hossein
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Int J Pediatr Otorhinolaryngol. 2012 Aug;76(8):1164-74. doi: 10.1016/j.ijporl.2012.04.026. Epub 2012 Jun 12.
Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prevalence of GJB2 mutations in the Iranian deaf population.
A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced.
In total, 374 (~16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ~65% of the GJB2 mutations found in population studied.
Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.
编码连接蛋白26（CX26）的GJB2基因突变与DFNB1位点的常染色体隐性非综合征性听力损失（NSHL）以及DFNA3位点的常染色体显性NSHL存在因果关系。在本研究中，我们调查了伊朗聋人群体中GJB2基因突变的发生率。
对总共2322名代表不同种族的伊朗聋人先证者进行GJB2基因变异筛查。所有人首先筛查c.35delG突变，因为该变异是伊朗人群中最常见的导致GJB2耳聋的突变。在所有携带零个或一个c.35delG等位基因的个体中，随后对第1和第2外显子进行测序。
总共374个（约16%）家庭存在由45种不同突变和5种新变异导致的与GJB2相关的耳聋。c.35delG突变是最常发现的，约占所研究人群中发现的GJB2突变的65%。
我们的数据还表明，在伊朗从西北向东南延伸的一条渐变群中，c.35delG突变的频率以及总体上与GJB2相关的耳聋频率逐渐降低。
