Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome
The genetic aetiology was determined in 13 out of 37 probands (35%), seven manifested with PDS and six with NSEVA. The present study highlights the importance of functional testing to confirm the pathogenicity of SLC26A4 variants and the phenotype-genotype correlation in SLC26A4-related disorders.
Authors
- Daniela Gašperíková (ORCID: https://orcid.org/0000-0002-5725-6424)
- Lukáš Varga (ORCID: https://orcid.org/0000-0001-9141-3596)
- Martina Škopková (ORCID: https://orcid.org/0000-0001-7927-9777)
- Silvia Borecká (ORCID: https://orcid.org/0000-0001-7412-7766)
- Emanuele Bernardinelli (ORCID: https://orcid.org/0000-0002-6119-3067)
- Diana Ugorová
- Silvia Dossena (ORCID: https://orcid.org/0000-0002-6694-9249)
- Juraj Staník (ORCID: https://orcid.org/0000-0002-0538-1274)
- Miroslav Sabo
- Marek Sklenar (ORCID: https://orcid.org/0009-0003-6066-4829)
Institutions
- Paracelsus Medical University (AT)
- National Institute of Cardiovascular Diseases (SK)
- University Hospital Bratislava (SK)
- Institute of Experimental Endocrinology of the Slovak Academy of Sciences (SK)
- Comenius University Bratislava (SK)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1186/s10020-025-01262-x
- Citations
- 3
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 4.39
Funders
- Agentúra na Podporu Výskumu a Vývoja
- Vedecká Grantová Agentúra MŠVVaŠ SR a SAV