title: A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.
abstract: Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL).
authors.affiliation: Department of Cell & Molecular Biology, Marand Branch, Islamic Azad University, Marand, Iran. onsoribiomol@marandiau.ac.ir.
authors.forename: Habib
authors.initials: H
authors.lastname: Onsori
authors.affiliation: Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.AND Department of Clinical Biochemistry, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. rahmati_bio@yahoo.com.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Rahmati
authors.affiliation: Department of Physiology, Payame Noor University, Marand, Iran. fazli_bio57@yahoo.com.
authors.forename: Davood
authors.initials: D
authors.lastname: Fazli
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26