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

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 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.

scholarly journals A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

2019 ◽  
Vol 138 (10) ◽  
pp. 1071-1075 ◽  
Author(s):  
Claire J. Sineni ◽  
Muzeyyen Yildirim-Baylan ◽  
Shengru Guo ◽  
Vladimir Camarena ◽  
Gaofeng Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

2015 ◽  
Vol 273 (5) ◽  
pp. 1151-1154 ◽  
Author(s):  
Saba Battelino ◽  
Gasper Klancar ◽  
Jernej Kovac ◽  
Tadej Battelino ◽  
Katarina Trebusak Podkrajsek
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

2012 ◽  
Vol 158A (10) ◽  
pp. 2485-2492 ◽  
Author(s):  
Mojgan Babanejad ◽  
Zohreh Fattahi ◽  
Niloofar Bazazzadegan ◽  
Carla Nishimura ◽  
Nicole Meyer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Nonsyndromic Hearing Loss ◽  
Comprehensive Study
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