scholarly journals GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells

2020 ◽  
Vol 8 ◽  
Author(s):  
Rianne Beach ◽  
Julia M. Abitbol ◽  
Brian L. Allman ◽  
Jessica L. Esseltine ◽  
Qing Shao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gjb2 Mutations ◽  
Functional Defects

scholarly journals Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

2015 ◽  
Vol 60 (10) ◽  
pp. 613-617 ◽  
Author(s):  
Mirei Taniguchi ◽  
Hirotaka Matsuo ◽  
Seiko Shimizu ◽  
Akiyoshi Nakayama ◽  
Koji Suzuki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Carrier Frequency ◽  
Japanese Population ◽  
Hereditary Hearing Loss ◽  
Gjb2 Mutations

Spectrum of the GJB2 mutations in Belarussian patients with hearing loss. Findings of pilot genetic screening of hearing impairment in newborns

2014 ◽  
Vol 50 (2) ◽  
pp. 191-197 ◽  
Author(s):  
E. A. Bliznetz ◽  
D. N. Martsul ◽  
O. G. Khorov ◽  
T. G. Markova ◽  
A. V. Polyakov
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Genetic Screening ◽  
Gjb2 Mutations

Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece

2004 ◽  
Vol 261 (5) ◽  
pp. 259-261 ◽  
Author(s):  
N. Eleftheriades ◽  
N. Voyiatzis ◽  
M. Grigoriadou ◽  
M. B. Petersen ◽  
T. Iliades ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Northern Greece ◽  
Gjb2 Mutations ◽  
Genetic Form

scholarly journals Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss

2014 ◽  
Vol 78 (4) ◽  
pp. 614-617 ◽  
Author(s):  
Yongchuan Chai ◽  
Lianhua Sun ◽  
Xiuhong Pang ◽  
Xiaowen Wang ◽  
Dongye Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Syndromic Hearing Loss ◽  
Gjb2 Mutations

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

2014 ◽  
Vol 93 (2) ◽  
pp. 471-476 ◽  
Author(s):  
VASSOS NEOCLEOUS ◽  
CONSTANTINA COSTI ◽  
CHRISTOS SHAMMAS ◽  
ELENA SPANOU ◽  
VIOLETTA ANASTASIADOU ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss ◽  
Gjb2 Mutations

An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review

2019 ◽  
Vol 119 ◽  
pp. 136-140 ◽  
Author(s):  
Mahbobeh koohiyan ◽  
Amirhossein Ahmadi ◽  
Farideh koohian ◽  
Shahrzad Aghaei ◽  
Beheshteh Amiri ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Literature Review ◽  
The South ◽  
Gjb2 Mutations

scholarly journals Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia

Medicina ◽  
2018 ◽  
Vol 54 (2) ◽  
pp. 28
Author(s):  
Pavlina Plevova ◽  
Petra Tvrda ◽  
Martina Paprskarova ◽  
Petra Turska ◽  
Barbara Kantorova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sanger Sequencing ◽  
Large Deletion ◽  
The Other ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
The Czech Republic ◽  
Gjb2 Mutation ◽  
C 23 ◽  
Gjb2 Mutations

Background and Objective: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. Patients and Methods: This study included 200 patients (93 males, 107 females, mean age 16.9 years, ranging from 4 months to 62 years) with nonsyndromic sensorineural hearing loss. We screened all patients for mutations in GJB2 and the large deletion del(GJB6-D13S1830). We performed further screening for additional genes (SERPINB6, TMIE, COCH, ESPN, ACTG1, KCNQ4, and GJB3) with Sanger sequencing on a subset of patients that were negative for GJB2 mutations. Results: We detected biallelic GJB2 mutations in 44 patients (22%). Among these patients, 63.6%, 9.1% and 2.3% exhibited homozygous c.35delG, p.Trp24*, and p.Met34Thr mutations, respectively. The remaining 25% of these patients exhibited compound heterozygous c.35delG, c.-23+1G>A, p.Trp24*, p.Val37Ile, p.Met34Thr, p.Leu90Pro, c.235delC, c.313_326del14, p.Ser139Asn, and p.Gly147Leu mutations. We found a monoallelic GJB2 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. Conclusions: One fifth of our cohort had deafness related to GJB2 mutations. The del(GJB6-D13S1830), SERPINB6, TMIE, COCH, ESPN, ACTG1, GJB3, and KCNQ4 mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del(GJB6-D13S1830) testing should be performed only when patients with deafness carry the monoallelic GJB2 mutation.

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