Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10413978" target="_blank" >RIV/00216208:11110/20:10413978 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/20:10413978 RIV/00064203:_____/20:10413978

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=NubDI7jbOn" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=NubDI7jbOn</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cge.13839" target="_blank" >10.1111/cge.13839</a>

Result language

angličtina

Original language name

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing

Original language description

Non-syndromic autosomal recessive hearing loss is an extremely heterogeneous disease caused by mutations in more than 80 genes. We examined Czech patients with early/prelingual non-syndromic, presumably genetic hearing loss (NSHL) without known cause after GJB2 gene testing. Four hundred and twenty one unrelated patients were examined for STRC gene deletions with quantitative comparative fluorescent PCR (QCF PCR), 197 unrelated patients with next generation sequencing by custom designed NSHL gene panels and 19 patients with whole exome sequencing (WES). Combining all methods, we discovered the cause of the disease in 54 patients. The most frequent type of NSHL was DFNB16 (STRC), which was detected in 22 patients, almost half of the clarified patients. Other biallelic pathogenic mutations were detected in the genes: MYO15A, LOXHD1, TMPRSS3 (each gene was responsible for 5 clarified patients, CDH23 (4 clarified patients), OTOG and OTOF (each gene was responsible for 2 clarified patients). Other genes (AIFM1, CABP2, DIAPH1, PTPRQ, RDX, SLC26A4, TBC1D24, TECTA, TMC1) that explained the cause of hearing impairment were further detected in only one patient for each gene. STRC gene mutations, mainly deletions remain the most frequent NSHL cause after mutations in the GJB2.

Czech name

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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/NV16-31173A" target="_blank" >NV16-31173A: Massive parallel sequencing (MPS) for elucidation of causes of early hereditary hearing loss in Czech patients without GJB2 mutations</a><br>

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2020

Confidentiality

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

Name of the periodical

Clinical Genetics

ISSN

0009-9163

e-ISSN

—

Volume of the periodical

98

Issue of the periodical within the volume

6

Country of publishing house

DK - DENMARK

Number of pages

7

Pages from-to

548-554

UT code for WoS article

000572915000001

EID of the result in the Scopus database

2-s2.0-85091498023