scholarly journals GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran

2021 ◽  
Author(s):  
Ehsan Abbaspour Rodbaneh ◽  
Mohammad Panahi ◽  
Bahareh Rahimi ◽  
Haleh Mokabber ◽  
Reza Farajollahi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss ◽  
First Report ◽  
Gjb2 Mutations

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss

2017 ◽  
Vol 21 (11) ◽  
pp. 686-691 ◽  
Author(s):  
Abdelaziz Tlili ◽  
Abdullah Al Mutery ◽  
Walaa Kamal Eddine Ahmad Mohamed ◽  
Mona Mahfood ◽  
Hassen Hadj Kacem
Keyword(s):  
Hearing Loss ◽  
United Arab Emirates ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss ◽  
Gjb2 Mutations

scholarly journals Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

2011 ◽  
Vol 2011 ◽  
pp. 1-6
Author(s):  
Masoud Motasaddi Zarandy ◽  
Mersedeh Rohanizadegan ◽  
Hojjat Salmasian ◽  
Nooshin Nikzad ◽  
Niloofar Bazazzadegan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Application ◽  
Cochlear Implantation ◽  
Autosomal Recessive ◽  
Mutation Screening ◽  
Consanguineous Marriage ◽  
High Rate ◽  
Nonsyndromic Hearing Loss ◽  
Current Policy ◽  
Gjb2 Mutations

Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs) and speech recognition thresholds (SRTs) improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all ). Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, ). Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss

Gene ◽  
2013 ◽  
Vol 525 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Zied Riahi ◽  
Hassen Hammami ◽  
Houyem Ouragini ◽  
Habib Messai ◽  
Rim Zainine ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Nonsyndromic Hearing Loss

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico

2014 ◽  
Vol 78 (12) ◽  
pp. 2107-2112 ◽  
Author(s):  
Aideé Alejandra Hernández-Juárez ◽  
José de Jesús Lugo-Trampe ◽  
Luis Daniel Campos-Acevedo ◽  
Angel Lugo-Trampe ◽  
José Luis Treviño-González ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss

Passage to India: The search for genes causing autosomal recessive nonsyndromic hearing loss☆☆☆★

1998 ◽  
Vol 118 (3) ◽  
pp. 333-337 ◽  
Author(s):  
R ZBAR ◽  
A RAMESH ◽  
C SRISAILAPATHY ◽  
K FUKUSHIMA ◽  
S WAYNE ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

2015 ◽  
Vol 94 (3) ◽  
pp. 483-487 ◽  
Author(s):  
ZOHREH MEHRJOO ◽  
MOJGAN BABANEJAD ◽  
KIMIA KAHRIZI ◽  
HOSSEIN NAJMABADI
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss ◽  
Novel Mutations

scholarly journals Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

PLoS ONE ◽  
2015 ◽  
Vol 10 (11) ◽  
pp. e0142154 ◽  
Author(s):  
Tahir Atik ◽  
Huseyin Onay ◽  
Ayca Aykut ◽  
Guney Bademci ◽  
Tayfun Kirazli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Comprehensive Analysis ◽  
Nonsyndromic Hearing Loss

scholarly journals Update of spectrum c.35delG and c.-23+1G>A mutations on theGJB2gene in individuals with autosomal recessive nonsyndromic hearing loss

2018 ◽  
Vol 83 (1) ◽  
pp. 1-10 ◽  
Author(s):  
Fatemeh Azadegan-Dehkordi ◽  
Reza Ahmadi ◽  
Mahbobeh Koohiyan ◽  
Morteza Hashemzadeh-Chaleshtori
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss ◽  
C 23

scholarly journals Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

2020 ◽  
Author(s):  
Kevin T Booth ◽  
Amama Ghaffar ◽  
Muhammad Rashid ◽  
Luke T Hovey ◽  
Mureed Hussain ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Rna Splicing ◽  
Autosomal Recessive ◽  
Dominant Negative ◽  
Nonsyndromic Hearing Loss ◽  
Loss Of Function ◽  
Functional Studies ◽  
Pathogenic Variants ◽  
Exon Splicing ◽  
Coding Variants

AbstractCOCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly deafness in mice and humans. Two forms of deafness are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss (DFNB110) via nonsense variants. Using a combination of targeted gene panels, exome sequencing and functional studies, we identified four novel pathogenic variants (two nonsense variants, one missense and one inframe deletion) in COCH as the cause of autosomal recessive hearing loss in a multi-ethnic cohort. To investigate whether the non-truncating variants exert their effect via a loss-of-function mechanism, we used mini-gene splicing assays. Our data showed both the missense and inframe deletion variants altered RNA-splicing by creating an exon splicing silencer and abolishing an exon splicing enhancer, respectively. Both variants create frameshifts and are predicted to result in a null allele. This study confirms the involvement of loss-of-function mutations in COCH in autosomal recessive nonsyndromic hearing loss, expands the mutational landscape of DFNB110 to include coding variants that alter RNA-splicing, and highlights the need to investigate the effect of coding variants on RNA-splicing.

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