title: GJB2 mutations: passage through Iran.
abstract: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.
authors.affiliation: Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran. hnajm@mavara.com
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Carla
authors.initials: C
authors.lastname: Nishimura
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Yasser
authors.initials: Y
authors.lastname: Riazalhosseini
authors.forename: Mahdi
authors.initials: M
authors.lastname: Malekpour
authors.forename: Ahmad
authors.initials: A
authors.lastname: Daneshi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Farhadi
authors.forename: Marzieh
authors.initials: M
authors.lastname: Mohseni
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
authors.forename: Ahmad
authors.initials: A
authors.lastname: Ebrahimi
authors.forename: Niloofar
authors.initials: N
authors.lastname: Bazazzadegan
authors.forename: Anoosh
authors.initials: A
authors.lastname: Naghavi
authors.forename: Matthew
authors.initials: M
authors.lastname: Avenarius
authors.forename: Sanaz
authors.initials: S
authors.lastname: Arzhangi
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D005843:Geography; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D015995:Prevalence
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA