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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

<a href="/cs/project/NW24J-06-00119" target="_blank" >NW24J-06-00119: Analýza genetické etiologie progresivní vady sluchu pomocí WGS a inovativních bioinformatických přístupů</a><br>

Návaznosti

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

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

The Egyptian Journal of Otolaryngology

ISSN

1012-5574

e-ISSN

2090-8539

Svazek periodika

40

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

EG - Egyptská arabská republika

Počet stran výsledku

6

Strana od-do

131

Kód UT WoS článku

001328950800003

EID výsledku v databázi Scopus

2-s2.0-85205971914