Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct
The present investigation confirms the role of SLC26A4 in determining hearing loss with EVA, identifies novel genes in this pathophysiological context, highlights the importance of functional testing to exclude or assign pathogenicity of a given gene variant, proposes a possible diagnostic workflow, suggests a novel pathomechanism of disease for TJP2, and highlights voids of knowledge that deserve further investigation.
Authors
- Paola Tesolin (ORCID: https://orcid.org/0000-0002-5238-6422)
- Giorgia Girotto (ORCID: https://orcid.org/0000-0003-4507-6589)
- Sebastian Roesch (ORCID: https://orcid.org/0000-0003-3579-6435)
- Emanuele Bernardinelli (ORCID: https://orcid.org/0000-0002-6119-3067)
- Silvia Dossena (ORCID: https://orcid.org/0000-0002-6694-9249)
- Anna Morgan (ORCID: https://orcid.org/0000-0001-6290-445X)
- Rapolas Jamontas
- Raffaella Liuni
Institutions
- University of Trieste (IT)
- Vilnius University (LT)
- Paracelsus Medical University (AT)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- University Hospital Regensburg (DE)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-03-22
- DOI
- https://doi.org/10.1186/s10020-025-01159-9
- Citations
- 2
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 2.93
Funders
- Paracelsus Medizinische Privatuniversität