A novel <i>GRHL2</i> nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss
Our findings broaden the <i>GRHL2</i> mutational spectrum, support a gain-of-function mechanism in DFNA28, and establish <i>GRHL2</i> as a gene associated with low-to-mid frequency HL, expanding known genotype-phenotype correlations.
Authors
- Xue Gao (ORCID: https://orcid.org/0000-0003-3213-9704)
- Yongyi Yuan (ORCID: https://orcid.org/0000-0002-7936-4776)
- Shasha Huang (ORCID: https://orcid.org/0000-0001-9324-0078)
- Ying Ma (ORCID: https://orcid.org/0000-0003-3791-7018)
- Shanshan Sun (ORCID: https://orcid.org/0000-0003-0645-8162)
- Pu Dai
- Yihui Zou (ORCID: https://orcid.org/0000-0003-1190-0752)
- Jiayi Yang
- Yahong Li
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Chinese PLA General Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Chinese Institute for Brain Research (CN)
- National Clinical Research (US)
Publication Details
- Journal
- Acta Oto-Laryngologica
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1080/00016489.2025.2592757
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00