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 for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced. RESULTS: In total, 374 (~16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ~65% of the GJB2 mutations found in population studied. CONCLUSION: Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.
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 for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced. RESULTS: In total, 374 (~16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ~65% of the GJB2 mutations found in population studied. CONCLUSION: Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.
Authors: Maryam Beheshtian; Mojgan Babanejad; Hela Azaiez; Niloofar Bazazzadegan; Diana Kolbe; Christina Sloan-Heggen; Sanaz Arzhangi; Kevin Booth; Marzieh Mohseni; Kathy Frees; Mohammad Hossein Azizi; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard Jh Smith; Hossein Najmabadi Journal: Arch Iran Med Date: 2016-10-01 Impact factor: 1.354
Authors: Christina M Sloan-Heggen; Mojgan Babanejad; Maryam Beheshtian; Allen C Simpson; Kevin T Booth; Fariba Ardalani; Kathy L Frees; Marzieh Mohseni; Reza Mozafari; Zohreh Mehrjoo; Leila Jamali; Saeideh Vaziri; Tara Akhtarkhavari; Niloofar Bazazzadegan; Nooshin Nikzat; Sanaz Arzhangi; Farahnaz Sabbagh; Hasan Otukesh; Seyed Morteza Seifati; Hossein Khodaei; Maryam Taghdiri; Nicole C Meyer; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard J H Smith; Hela Azaiez; Hossein Najmabadi Journal: J Med Genet Date: 2015-10-07 Impact factor: 6.318
Authors: Christina M Sloan-Heggen; Amanda O Bierer; A Eliot Shearer; Diana L Kolbe; Carla J Nishimura; Kathy L Frees; Sean S Ephraim; Seiji B Shibata; Kevin T Booth; Colleen A Campbell; Paul T Ranum; Amy E Weaver; E Ann Black-Ziegelbein; Donghong Wang; Hela Azaiez; Richard J H Smith Journal: Hum Genet Date: 2016-03-11 Impact factor: 4.132
Authors: Marina V Zytsar; Marita S Bady-Khoo; Valeriia Yu Danilchenko; Ekaterina A Maslova; Nikolay A Barashkov; Igor V Morozov; Alexander A Bondar; Olga L Posukh Journal: Genes (Basel) Date: 2020-07-21 Impact factor: 4.096
Authors: Nikolay A Barashkov; Vera G Pshennikova; Olga L Posukh; Fedor M Teryutin; Aisen V Solovyev; Leonid A Klarov; Georgii P Romanov; Nyurgun N Gotovtsev; Andrey A Kozhevnikov; Elena V Kirillina; Oksana G Sidorova; Lena M Vasilyevа; Elvira E Fedotova; Igor V Morozov; Alexander A Bondar; Natalya A Solovyevа; Sardana K Kononova; Adyum M Rafailov; Nikolay N Sazonov; Anatoliy N Alekseev; Mikhail I Tomsky; Lilya U Dzhemileva; Elza K Khusnutdinova; Sardana A Fedorova Journal: PLoS One Date: 2016-05-25 Impact factor: 3.240