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Observational Study
. 2025 Mar;172(3):982-992.
doi: 10.1002/ohn.1074. Epub 2024 Dec 12.

Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the COCH Gene

Aida Veiga Alonso  1 , Rocío González Aguado  1 , Andrea Martínez Camerano  1 , Julia Fernández Enseñat  1 , Esther Onecha de la Fuente  2   3 , Carmelo Morales Angulo  1   3   4
Affiliations
Observational Study

Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the COCH Gene

Aida Veiga Alonso et al. Otolaryngol Head Neck Surg. 2025 Mar.

Abstract

Objective: To ascertain pathogenic variants frequency and type in the COCH gene among Cantabrian patients with nonsyndromic hereditary hearing loss (HL), and to understand their cochleovestibular manifestations.

Study design: An observational study on patients with postlingual nonsyndromic sensorineural hearing loss (SNHL), who underwent a genetic study using next-generation sequencing (gene panel) in the otolaryngology clinics between January 2019 and December 2023.

Setting: Referral center Marqués de Valdecilla University Hospital in Santander (Spain).

Methods: A cohort of 248 otolaryngologic clinic-referred patients suspected of genetic SNHL underwent sequencing analysis targeting 231 genes.

Results: A likely pathogenic or pathogenic variant causing HL was found in 57 (22.8%) patients. Among them, 7 (2.8%) were heterozygous carriers of the c.263G>C variant in the LCCL domain of the COCH gene, included as index cases. Subsequent familial segregation studies were performed. A total of 22 genetically and clinically studied patients were included. All but 3 family members displayed bilateral progressive SNHL starting in adulthood. Thirteen patients reported instability, but none met Meniere's disease criteria.

Conclusion: COCH gene variants are frequent in Cantabria. A variant with pathogenic evidence (c.263G>C in the LCCL domain) was detected. The phenotype observed is similar to a subgroup of patients with other variants described in the same functional domain: progressive SNHL and instability secondary to vestibular hypofunction.

Keywords: dizziness; genetics; hypoacusis; otology; otoneurology.

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References

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