Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10400754" target="_blank" >RIV/00064203:_____/19:10400754 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10400754 RIV/00216208:11510/19:10400754 RIV/00843989:_____/19:E0108020 RIV/00216208:11130/19:10400754
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=k2FkPt7CNF" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=k2FkPt7CNF</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00405-019-05649-5" target="_blank" >10.1007/s00405-019-05649-5</a>
Alternative languages
Result language
angličtina
Original language name
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
Original language description
Introduction Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of nonsyndromic autosomal recessive hearing loss (AR-NSHL) are biallelic pathogenic mutations in the GJB2 gene causing DFNB1. The worldwide search for the second most common type of AR-NSHL took almost two decades. Recently reported alterations (mostly deletions) of the STRC gene, also named DFNB16, seem to be the second most frequent cause of AR-NSHL. Genetic testing of STRC is very challenging due to the highly homologous pseudogene. Anecdotal evidence from single patients shows that STRC mutations have their typical audiological findings and patients usually have moderate hearing loss. The aim of this study is to discover if audiological findings in patients with biallelic pathogenic mutations affecting STRC have the characteristic features and shape of audiological curves and if there are genotype/phenotype correlations in relation to various types of STRC mutations. Methods Eleven hearing loss patients with pathogenic mutations on both alleles of the STRC gene were detected during routine genetic examination of AR-NSHL patients. Audiological examination consisted of pure tone audiometry, stapedial reflexes, tympanometry and otoacoustic emission tests. Results The threshold of pure tone average (PTA) was 46 dB and otoacoustic emissions were not detectable in these DFNB16 patients. All patients were without vestibular irritation or asymmetry. Conclusion Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30206 - Otorhinolaryngology
Result continuities
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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Archives of Oto-Rhino-Laryngology
ISSN
0937-4477
e-ISSN
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Volume of the periodical
276
Issue of the periodical within the volume
12
Country of publishing house
DE - GERMANY
Number of pages
6
Pages from-to
3353-3358
UT code for WoS article
000496697400013
EID of the result in the Scopus database
2-s2.0-85074428702