Hearing loss secondary to novel variants of the KCNQ4 gene
KCNQ4 gene variants are rare in Cantabria, present in less than 2% of patients with sensorineural hearing loss of unknown origin. Although most variants identified in our study had not been previously described, the observed phenotype aligned with the typical presentation: bilateral, progressive sensorineural hearing loss with variable onset and severity. Some patients may benefit from cochlear implants.
Authors
- Esther Onecha (ORCID: https://orcid.org/0000-0002-8631-3555)
- Carmelo Morales‐Angulo (ORCID: https://orcid.org/0000-0002-4268-2762)
- Rocío González‐Aguado (ORCID: https://orcid.org/0000-0002-4407-287X)
- Joaquim Enseñat (ORCID: https://orcid.org/0009-0001-6728-8251)
Institutions
- Universidad de Cantabria (ES)
- Marqués de Valdecilla University Hospital (ES)
- Instituto de Investigación Marqués de Valdecilla (ES)
Publication Details
- Journal
- European Archives of Oto-Rhino-Laryngology
- Published
- 2025-04-03
- DOI
- https://doi.org/10.1007/s00405-025-09288-x
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universidad de Cantabria