STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375381" target="_blank" >RIV/00216208:11130/18:10375381 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/18:10375381

Result on the web

<a href="https://doi.org/10.1089/gtmb.2017.0155" target="_blank" >https://doi.org/10.1089/gtmb.2017.0155</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1089/gtmb.2017.0155" target="_blank" >10.1089/gtmb.2017.0155</a>

Result language

angličtina

Original language name

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Original language description

Introduction: Hearing loss (HL) is the most common sensory deficit in humans. HL is an extremely heterogeneous condition presenting most frequently as a nonsyndromic (NS) condition inherited in an autosomal recessive (AR) pattern, termed DFNB. Mutations affecting the STRC gene cause DFNB type 16. Various types of mutations within the STRC gene have been reported from the U.S. and German populations, but no information about the relative contribution of STRC mutations to NSHL-AR among Czech patients is available. Methods and Patients: Two hundred and eighty-eight patients with prelingual NSHL, either sporadic (n=207) or AR (n=81), who had been previously tested negative for the mutations affecting the GJB2 gene, were included in the study. These patients were tested for STRC mutations by a quantitative comparative fluorescent polymerase chain reaction (QF-PCR) assay. In addition, 31 of the 81 NSHL-AR patients were analyzed by massively parallel sequencing using one of two different gene panels: 23 patients were analyzed by multiplex-ligation probe amplification (MLPA); and 9 patients by SNP microarrays. Results: Causal mutations affecting the STRC gene (including copy number variations [CNVs] and point mutations) were found in 5.5% of all patients and 13.6% of the 81 patients in the subgroup with NSHL-AR. Conclusion: Our results provide strong evidence that STRC gene mutations are an important cause of NSHL-AR in Czech HL patients and are probably the second most common cause of DFNB. Large CNVs were more frequent than point mutations and it is reasonable to test them first by a QF-PCR methoda simple, accessible, and efficient tool for STRC CNV detection, which can be combined by MLPA.

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/NV16-31173A" 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

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

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

Name of the periodical

Genetic Testing and Molecular Biomarkers

ISSN

1945-0265

e-ISSN

—

Volume of the periodical

22

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

127-134

UT code for WoS article

000424707900008

EID of the result in the Scopus database

2-s2.0-85041722238