Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene
The human pathogenic variant c.455-2A > G in the LHX3 gene on chromosome 9q34, which present as a founder mutation in the population in northern Sweden, is responsible for phenotypes associated with progressive hearing loss and balance impairment. These findings prove that the LHX3 gene is crucial for the function of both the cochlear and vestibular organs.
Authors
- Irina Golovleva (ORCID: https://orcid.org/0000-0001-8741-0616)
- Mimmi Werner (ORCID: https://orcid.org/0000-0002-9031-565X)
- Berit Kriström (ORCID: https://orcid.org/0000-0002-5456-2514)
- Elenor Lundgren
- Åsa Kjellgren
Institutions
- Umeå University (SE)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-11-15
- DOI
- https://doi.org/10.1186/s12920-024-02049-5
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Umeå Universitet
- Medicinska fakulteten, Umeå Universitet