Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the <i>COCH</i> Gene
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.
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)
- Aida Veiga-Alonso (ORCID: https://orcid.org/0009-0004-9223-2219)
- Joaquim Enseñat (ORCID: https://orcid.org/0009-0001-6728-8251)
- Andrea Martínez-Camerano (ORCID: https://orcid.org/0009-0007-3754-4334)
Institutions
- Universidad de Cantabria (ES)
- Marqués de Valdecilla University Hospital (ES)
- Instituto de Investigación Marqués de Valdecilla (ES)
Publication Details
- Journal
- Otolaryngology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1002/ohn.1074
- Citations
- 1
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.36