Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population
Our work constitutes a preliminary evaluation of the molecular contribution of X-linked genes in heritable HL (~ 1.14%). The 15 novel variants reported here expand the mutational spectrum of these genes. Analysis of the genotype-phenotype relationship is valuable for X-linked HL precise diagnostics and genetic counseling. Elucidation of the pathogenic mechanisms and audiological profiles of HL can also guide choices regarding treatment modalities.
Authors
- Yongyi Yuan (ORCID: https://orcid.org/0000-0002-7936-4776)
- Shasha Huang (ORCID: https://orcid.org/0000-0001-9324-0078)
- Guojian Wang (ORCID: https://orcid.org/0000-0001-5934-4594)
- Pu Dai (ORCID: https://orcid.org/0000-0003-0718-8889)
- Ying Ma (ORCID: https://orcid.org/0000-0003-3791-7018)
- Dongyang Kang (ORCID: https://orcid.org/0000-0003-1256-4156)
- Mingyu Han (ORCID: https://orcid.org/0000-0001-5459-9782)
- Jinyuan Yang
- Xin Zhang (ORCID: https://orcid.org/0000-0001-9511-4737)
- Yijin Chen (ORCID: https://orcid.org/0000-0001-9559-024X)
- Haifeng Feng (ORCID: https://orcid.org/0000-0001-5409-5947)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Chinese Center For Disease Control and Prevention (CN)
- University of Balochistan (PK)
- Chinese PLA General Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- State Key Laboratory of Cryptology (CN)
- Beijing Center for Disease Prevention and Control (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1186/s13023-024-03338-z
- Citations
- 6
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 2.17
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Tianjin Municipal Science and Technology Commission