A Novel Frameshift Variant c.1023_1029del (p. <scp>Asp342ArgfsTer54</scp> ) Leading to Extended Incorrect Protein C Termini in <scp> <i>HOMER2</i> </scp> Causing Autosomal Dominant Nonsyndromic Hearing Loss
These findings may help expand the spectrum of pathogenic variants of the HOMER2 gene and provide a molecular interpretation for these patients with ADNSHL.
Authors
- Yongyi Yuan (ORCID: https://orcid.org/0000-0002-7936-4776)
- Shasha Huang (ORCID: https://orcid.org/0000-0001-9324-0078)
- Weiqian Wang (ORCID: https://orcid.org/0000-0002-1420-2792)
- Suyan Yang
- Min Liu (ORCID: https://orcid.org/0000-0001-5976-8100)
- Xiang Wang (ORCID: https://orcid.org/0000-0002-2135-8576)
- Jin‐Cao Xu
- Xue Gao (ORCID: https://orcid.org/0000-0003-4305-1206)
- Lily Peng (ORCID: https://orcid.org/0009-0007-5552-5428)
- Dong‐Yang Kang
Institutions
- Capital Medical University (CN)
- Chinese PLA General Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Ministry of Education (SA)
- Chinese Institute for Brain Research (CN)
- PLA Academy of Military Science (CN)
- Jinzhou Medical University (CN)
Publication Details
- Journal
- Journal of Clinical Laboratory Analysis
- Published
- 2025-12-05
- DOI
- https://doi.org/10.1002/jcla.70137
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China