Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population
Our results indicated the distinct genetic patterns and variable phenotypic characteristics of OPA1-related AN in the Chinese population. The audiological features of OPA1-related patients were comprehensively described as exhibiting AN. We identified one novel splicing variants that expand the genetic spectrum of OPA1 variants in AN.
Authors
- Linyi Xie (ORCID: https://orcid.org/0000-0003-3272-2596)
- Tao Shi (ORCID: https://orcid.org/0000-0002-3820-3060)
- Jin Li (ORCID: https://orcid.org/0000-0001-9201-2321)
- Ziyi Chen (ORCID: https://orcid.org/0000-0002-2252-3916)
- Qiuju Wang (ORCID: https://orcid.org/0000-0002-3604-7279)
- Wenjia Wang (ORCID: https://orcid.org/0000-0001-9219-0494)
- Lan Lan
- Dayong Wang (ORCID: https://orcid.org/0000-0002-2086-1663)
- Hongyang Wang (ORCID: https://orcid.org/0000-0002-4709-3334)
- Fen Xiong (ORCID: https://orcid.org/0000-0002-5814-0124)
- Jing Guan (ORCID: https://orcid.org/0000-0002-1134-1172)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- General Administration of Quality Supervision, Inspection and Quarantine (CN)
- Chinese PLA General Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Ministry of Education (SA)
- State Key Laboratory of Cryptology (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1186/s13023-025-04040-4
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China