A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10486217" target="_blank" >RIV/00064203:_____/24:10486217 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/24:10486217 RIV/00216208:11130/24:10486217

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=tSQupWz6iC" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=tSQupWz6iC</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s43163-024-00661-x" target="_blank" >10.1186/s43163-024-00661-x</a>

Result language

angličtina

Original language name

A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report

Original language description

Background Hearing loss is a common inborn neurosensory condition. Hearing loss is very heterogeneous, and while screening programs exist for children, adolescents and adults with late-onset hearing loss often do not get referrals to geneticists. Objective To diagnose the cause of hearing impairment in two related late-onset hearing loss patients-father and son-on a molecular level. Both underwent audiological examinations, and both had moderate hearing loss.&lt;br /&gt; Case presentation.&lt;br /&gt; We used massive parallel sequencing, Sanger sequencing, MLPA, and standard audiological methods. We identified an inherited autosomal dominant likely causative variant in the TBC1D24 gene of both patients. They did not show any other TBC1D24 spectrum-related symptoms. Furthermore, the younger patient was found to be compound heterozygous for two variants in STRC gene. Conclusions Only a few dozen TBC1D24 hearing loss patients have been reported. On the contrary, STRC is a common hearing loss cause. We speculate that in the younger patient, the phenotype is caused by a combination of effects of both genes. The older patient&apos;s phenotype is more likely caused only by the TBC1D24 variant. We believe that more attention should be paid to adolescent and adult-onset hearing loss patients, and more frequent referrals to geneticists are warranted.

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

30101 - Human genetics

Project

<a href="/en/project/NW24J-06-00119" target="_blank" >NW24J-06-00119: Analysis of the genetic etiology of progressive hearing loss using WGS and innovative bioinformatics approaches</a><br>

Continuities

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

Publication year

2024

Confidentiality

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

Name of the periodical

The Egyptian Journal of Otolaryngology

ISSN

1012-5574

e-ISSN

2090-8539

Volume of the periodical

40

Issue of the periodical within the volume

1

Country of publishing house

EG - EGYPT

Number of pages

6

Pages from-to

131

UT code for WoS article

001328950800003

EID of the result in the Scopus database

2-s2.0-85205971914