GJB2 mutations: passage through Iran.
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.
Najmabadi
Hossein
H
Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran. hnajm@mavara.com
Nishimura
Carla
C
Kahrizi
Kimia
K
Riazalhosseini
Yasser
Y
Malekpour
Mahdi
M
Daneshi
Ahmad
A
Farhadi
Mohammad
M
Mohseni
Marzieh
M
Mahdieh
Nejat
N
Ebrahimi
Ahmad
A
Bazazzadegan
Niloofar
N
Naghavi
Anoosh
A
Avenarius
Matthew
M
Arzhangi
Sanaz
S
Smith
Richard J H
RJ
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA