A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family
This research expanded the pool of evidence regarding the association between mutations in the TMPRSS3 gene and ARNSHL. The finding confirmed that a single nucleotide deletion caused HL in the proband, suggesting that genetic testing, such as WES, is a robust technique for diagnosing patients with this condition.
Authors
- Morteza Oladnabi (ORCID: https://orcid.org/0000-0001-7037-5084)
- Nader Mansour Samaei (ORCID: https://orcid.org/0000-0002-1317-366X)
- Abdolazim Sarli (ORCID: https://orcid.org/0000-0002-5445-8266)
- Teymoor Khosravi (ORCID: https://orcid.org/0000-0002-4002-2584)
- Nahid Rezaie
- Saeedeh Sadat Ghazanfari
- Seyede Mahsa Mousavikia
Institutions
- Tarbiat Modares University (IR)
- Mashhad University of Medical Sciences (IR)
- Islamic Azad University, Mashhad (IR)
- Golestan University (IR)
- Golestan University of Medical Sciences (IR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1186/s12920-024-02055-7
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Golestan University of Medical Sciences