Vestibular Profile of Patients with Hearing Loss Caused by
Pathogenic Variants of the STRC Gene

J 2026

Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene

BALATKOVA, Zuzana; Veronika SVOBODOVA; Vladimir KOUCKY; Zuzana LIBAKOVA; Anna KAMENIKOVA et al.

Základní údaje

Originální název

Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene

Autoři

BALATKOVA, Zuzana; Veronika SVOBODOVA; Vladimir KOUCKY; Zuzana LIBAKOVA; Anna KAMENIKOVA; Dana SAFKA BROZKOVA; Martin KOMARC; Marketa BONAVENTUROVA; Vít KRUNTORÁD a Zdenek CADA

Vydání

OTOLOGY &a NEUROTOLOGY OPEN, PHILADELPHIA, LIPPINCOTT WILLIAMS & WILKINS, 2026, 2766-3604

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30206 Otorhinolaryngology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1097/ONO.0000000000000084

UT WoS

001670908800001

Klíčová slova anglicky

Audiological phenotype; Autosomal recessive nonsyndromic hearing loss; DFNB16; <italic>STRC</italic>; Stereocilin; Vestibular function

Štítky

14110319, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 25. 2. 2026 10:12, Mgr. Tereza Miškechová

Anotace

V originále

Introduction:The second most frequent cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSHL) worldwide is a biallelic pathogenic alteration of the STRC (stereocilin) gene, also named DFNB16. The type and severity of hearing impairment in DFNB16 patients were studied thoroughly, while information on a detailed examination of their vestibular function is still lacking. Our aim was to characterize the vestibular status of patients with biallelic pathogenic variants in STRC by performing a complete up-to-date test battery.Methods:Eight AR-NSHL patients, aged 6-37 (mean age +/- standard error of the mean [SEM] 16.13 +/- 8.67), underwent standard audiological testing and otoneurologic investigation, including videonystagmography (VNG) with caloric stimulation, video head-impulse test (vHIT), and cervical vestibular evoked myogenic potentials (c-VEMPs). Subjects were divided into three groups (group 1, 2, and 3) according to the type of diagnosed STRC gene variant.Results:The grade of the hearing loss was calculated as pure tone average (PTA) (mean PTA +/- SEM 41.88 dB +/- 5.49). The vHIT displayed nearly normal bilateral gain and mostly the absence of saccades in all examined groups. Cervical VEMPs in response to air-conducted and bone-conducted stimuli showed prolonged latencies of waves P1 and N1 bilaterally in group 1, although latencies in groups 2 and 3 were within normal range. The results of VNG indicated normal vestibular and central oculomotor function.Conclusions:Biallelic pathogenic variants in the STRC gene influence the inner ear's cochlear and vestibular function. Certain vestibular abnormalities in DFNB16 patients were detected by detailed evaluation, despite none of the DFNB16 subjects in our study reported subjective symptoms.

Citovat

BALATKOVA, Zuzana; Veronika SVOBODOVA; Vladimir KOUCKY; Zuzana LIBAKOVA; Anna KAMENIKOVA; Dana SAFKA BROZKOVA; Martin KOMARC; Marketa BONAVENTUROVA; Vít KRUNTORÁD a Zdenek CADA. Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene. OTOLOGY &a NEUROTOLOGY OPEN. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS, 2026, roč. 6, č. 1, s. 1-6. ISSN 2766-3604. Dostupné z: https://doi.org/10.1097/ONO.0000000000000084.

@article{2556622,
   author = {Balatkova, Zuzana and Svobodova, Veronika and Koucky, Vladimir and Libakova, Zuzana and Kamenikova, Anna and Safka Brozkova, Dana and Komarc, Martin and Bonaventurova, Marketa and Kruntorád, Vít and Cada, Zdenek},
   article_location = {PHILADELPHIA},
   article_number = {1},
   doi = {https://doi.org/10.1097/ONO.0000000000000084},
   keywords = {Audiological phenotype; Autosomal recessive nonsyndromic hearing loss; DFNB16; <italic>STRC</italic>; Stereocilin; Vestibular function},
   language = {eng},
   issn = {2766-3604},
   journal = {OTOLOGY &a NEUROTOLOGY OPEN},
   title = {Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene},
   url = {https://journals-lww-com.ezproxy.muni.cz/onojournal/fulltext/2026/03000/vestibular_profile_of_patients_with_hearing_loss.3.aspx},
   volume = {6},
   year = {2026}
}

TY  - JOUR
ID  - 2556622
AU  - Balatkova, Zuzana - Svobodova, Veronika - Koucky, Vladimir - Libakova, Zuzana - Kamenikova, Anna - Safka Brozkova, Dana - Komarc, Martin - Bonaventurova, Marketa - Kruntorád, Vít - Cada, Zdenek
PY  - 2026
TI  - Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene
JF  - OTOLOGY &a NEUROTOLOGY OPEN
VL  - 6
IS  - 1
SP  - 1-6
EP  - 1-6
PB  - LIPPINCOTT WILLIAMS & WILKINS
SN  - 27663604
KW  - Audiological phenotype
KW  - Autosomal recessive nonsyndromic hearing loss
KW  - DFNB16
KW  - <italic>STRC</italic>
KW  - Stereocilin
KW  - Vestibular function
UR  - https://journals-lww-com.ezproxy.muni.cz/onojournal/fulltext/2026/03000/vestibular_profile_of_patients_with_hearing_loss.3.aspx
N2  - Introduction:The second most frequent cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSHL) worldwide is a biallelic pathogenic alteration of the STRC (stereocilin) gene, also named DFNB16. The type and severity of hearing impairment in DFNB16 patients were studied thoroughly, while information on a detailed examination of their vestibular function is still lacking. Our aim was to characterize the vestibular status of patients with biallelic pathogenic variants in STRC by performing a complete up-to-date test battery.Methods:Eight AR-NSHL patients, aged 6-37 (mean age +/- standard error of the mean [SEM] 16.13 +/- 8.67), underwent standard audiological testing and otoneurologic investigation, including videonystagmography (VNG) with caloric stimulation, video head-impulse test (vHIT), and cervical vestibular evoked myogenic potentials (c-VEMPs). Subjects were divided into three groups (group 1, 2, and 3) according to the type of diagnosed STRC gene variant.Results:The grade of the hearing loss was calculated as pure tone average (PTA) (mean PTA +/- SEM 41.88 dB +/- 5.49). The vHIT displayed nearly normal bilateral gain and mostly the absence of saccades in all examined groups. Cervical VEMPs in response to air-conducted and bone-conducted stimuli showed prolonged latencies of waves P1 and N1 bilaterally in group 1, although latencies in groups 2 and 3 were within normal range. The results of VNG indicated normal vestibular and central oculomotor function.Conclusions:Biallelic pathogenic variants in the STRC gene influence the inner ear's cochlear and vestibular function. Certain vestibular abnormalities in DFNB16 patients were detected by detailed evaluation, despite none of the DFNB16 subjects in our study reported subjective symptoms.
ER  -

BALATKOVA, Zuzana; Veronika SVOBODOVA; Vladimir KOUCKY; Zuzana LIBAKOVA; Anna KAMENIKOVA; Dana SAFKA BROZKOVA; Martin KOMARC; Marketa BONAVENTUROVA; Vít KRUNTORÁD a Zdenek CADA. Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene. \textit{OTOLOGY \&{}a NEUROTOLOGY OPEN}. PHILADELPHIA: LIPPINCOTT WILLIAMS \&{} WILKINS, 2026, roč.~6, č.~1, s.~1-6. ISSN~2766-3604. Dostupné z: https://doi.org/10.1097/ONO.0000000000000084.

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