The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10427711" target="_blank" >RIV/00216208:11130/21:10427711 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/21:10427711

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=diKzC1QsfD" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=diKzC1QsfD</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/genes12050684" target="_blank" >10.3390/genes12050684</a>

Result language

angličtina

Original language name

The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region

Original language description

Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent among those with hearing loss compared to normal-hearing individuals. This excess among patients led us to hypothesize that there could be another pathogenic variant in the GJB2 region/DFNB1 locus. A hitherto undiscovered variant could, in part, explain the cause of hearing loss in patients and would mean reclassifying them as patients with GJB2 biallelic pathogenic variants. In order to detect an unknown causal variant, we examined 28 patients using NGS with probes that continuously cover the 0.4 Mb in the DFNB1 region. An additional 49 patients were examined by WES to uncover only carriers. We did not reveal a second pathogenic variant in the DFNB1 region. However, in 19% of the WES-examined patients, the cause of hearing loss was found to be in genes other than the GJB2. We present evidence to show that a substantial number of patients are carriers of the GJB2 pathogenic variant, albeit only by chance.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/NV16-31921A" target="_blank" >NV16-31921A: Unknown cause of DFNB1 deafness in patients with only one pathogenic GJB2 gene mutation – complex elucidation by new molecular genetic approaches.</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Genes

ISSN

2073-4425

e-ISSN

—

Volume of the periodical

12

Issue of the periodical within the volume

5

Country of publishing house

CH - SWITZERLAND

Number of pages

11

Pages from-to

684

UT code for WoS article

000653939800001

EID of the result in the Scopus database

2-s2.0-85105544812