The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

doi:10.1016/j.ijporl.2012.04.026

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Article

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

International journal of pediatric otorhinolaryngology - 1 Aug 2012

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

Abstract excerpt

OBJECTIVE: 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. METHODS: A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened...

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PMID: 22695344
DOI: 10.1016/j.ijporl.2012.04.026

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GJB2

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