Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants
A novel variant of EYA4 was identified in a Chinese family with postlingual hearing loss, contributing to the expanding spectrum of EYA4 variants. The audiological features of EYA4 variants are highly heterogeneous and often challenging to detect early in clinical settings. Our findings highlight the significance of genetic testing in patients presenting with postlingual hearing loss.
Authors
- Linyi Xie (ORCID: https://orcid.org/0000-0003-3272-2596)
- Qiujing Zhang
- Xiedong Wu
- Yang Zhang (ORCID: https://orcid.org/0000-0002-1483-9195)
- Qiuju Wang (ORCID: https://orcid.org/0000-0002-3747-0327)
- Dayong Wang (ORCID: https://orcid.org/0000-0003-4656-7427)
- Qiuchen Zheng
- Fen Xiong (ORCID: https://orcid.org/0000-0002-5814-0124)
- Jialin Fan
- Junfang Xue (ORCID: https://orcid.org/0009-0000-3114-4769)
Institutions
- Peking University (CN)
- Chinese PLA General Hospital (CN)
- Peking University International Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-10-02
- DOI
- https://doi.org/10.1186/s12920-024-02010-6
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Peking University
- National Key Research and Development Program of China