Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Mol Biol Rep
2012 Dec 01;3912:10481-7. doi: 10.1007/s11033-012-1929-9.
Show Gene links
Show Anatomy links
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
Hashemi SB
,
Ashraf MJ
,
Saboori M
,
Azarpira N
,
Darai M
.
???displayArticle.abstract???
Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from south of Iran. Fifty patients presenting with autosomal recessive non-syndromic hearing loss from Fars, province in south of Iran, were studied for mutations in GJB2 gene and screened by direct sequencing. Mutations were detected in 15 out of 50 patients (30 %). Eight different mutations were identified; six of them were previously identified (35delG, V27I M34V, V153I, A149T, V198M). The remaining two alleles, L28I and N169T, were novel variants. The most common mutations were 35delG followed by V153I with an allele frequency of 7 and 6 %, respectively. In this study, 30 % of our subjects were found to have the causative variants or polymorphisms in GJB2 and the c.35delG mutation was the most common cause in our patients. However, more study with larger sample size as well as in vitro functional study for these new variants in Xenopus oocytes is required.
Bonyadi,
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
2009, Pubmed
Bonyadi,
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
2009,
Pubmed
Cryns,
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
2004,
Pubmed
Del Castillo,
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
2003,
Pubmed
Forge,
Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals.
2003,
Pubmed
Gasmelseed,
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
2004,
Pubmed
Gasparini,
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
2000,
Pubmed
Hochman,
Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.
2010,
Pubmed
Kelsell,
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
1997,
Pubmed
Kenneson,
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
2002,
Pubmed
Kudo,
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
2000,
Pubmed
Kudo,
GJB2 (connexin 26) mutations and childhood deafness in Thailand.
2001,
Pubmed
Liu,
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
2002,
Pubmed
Liu,
Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China.
2001,
Pubmed
Marazita,
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.
1993,
Pubmed
Marlin,
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
2005,
Pubmed
Marziano,
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
2003,
Pubmed
Masmoudi,
Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.
2000,
Pubmed
Medlej-Hashim,
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
2002,
Pubmed
Morell,
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
1998,
Pubmed
Mustapha,
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
2001,
Pubmed
Naghavi,
GJB2 mutations in Baluchi population.
2008,
Pubmed
Najmabadi,
GJB2 mutations: passage through Iran.
2005,
Pubmed
Nickel,
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
2008,
Pubmed
Oliveira,
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
2002,
Pubmed
Pampanos,
Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
2002,
Pubmed
Pandya,
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
2003,
Pubmed
Park,
Connexin26 mutations associated with nonsyndromic hearing loss.
2000,
Pubmed
Rabionet,
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
2000,
Pubmed
RamShankar,
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.
2003,
Pubmed
Rouan,
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
2001,
Pubmed
,
Xenbase
Santos,
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
2005,
Pubmed
Scott,
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
1998,
Pubmed
Shahin,
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
2002,
Pubmed
Simsek,
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.
2001,
Pubmed
Thomas,
Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.
2004,
Pubmed
Thönnissen,
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
2002,
Pubmed
Wang,
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
2003,
Pubmed
White,
Functional analysis of human Cx26 mutations associated with deafness.
2000,
Pubmed
,
Xenbase
Xia,
Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses.
2002,
Pubmed
Yilmaz,
Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.
2010,
Pubmed
Yuan,
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
2009,
Pubmed
Zampighi,
Functional and morphological correlates of connexin50 expressed in Xenopus laevis oocytes.
1999,
Pubmed
,
Xenbase