THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Our findings highlight THBS1 as a potential novel candidate gene for human HI characterized by a sloping high-frequency audio profile. This discovery enhances our understanding of the genetic etiology of HI and will aid in advancing molecular diagnosis.
Authors
- Thashi Bharadwaj (ORCID: https://orcid.org/0000-0002-7870-5655)
- Isabelle Schrauwen (ORCID: https://orcid.org/0000-0001-7310-6082)
- Saadullah Khan (ORCID: https://orcid.org/0000-0001-5037-1473)
- Irfan Ullah (ORCID: https://orcid.org/0000-0001-6992-6723)
- Suzanne M. Leal (ORCID: https://orcid.org/0000-0003-1231-8174)
- Anushree Acharya (ORCID: https://orcid.org/0000-0002-1889-8723)
- Wasim Ahmad (ORCID: https://orcid.org/0000-0003-1541-7258)
- Fati Ullah Khan
Institutions
- Quaid-i-Azam University (PK)
- Shaheed Benazir Bhutto University (PK)
- University of Arizona (US)
- Kohat University of Science and Technology (PK)
- Columbia University Irving Medical Center (US)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1186/s12920-024-02060-w
- Citations
- 1
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.36
Funders
- National Institutes of Health