Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing
Our study highlights the genetic heterogeneity of DFNB9 and emphasizes the importance of population-specific variant interpretation. The integration of advanced sequencing technologies, predictive algorithms, and functional validation assays will improve the accuracy of molecular diagnosis and inform personalized treatment strategies for individuals with DFNB9.
Authors
- Chen‐Chi Wu (ORCID: https://orcid.org/0000-0002-5047-2204)
- Chang-Han Ho (ORCID: https://orcid.org/0009-0007-3299-6657)
- Cheng‐Yu Tsai (ORCID: https://orcid.org/0000-0001-6150-4577)
- Pei‐Lung Chen (ORCID: https://orcid.org/0000-0002-5640-3074)
- Pei‐Hsuan Lin (ORCID: https://orcid.org/0000-0002-0855-5559)
- Yen‐Fu Cheng (ORCID: https://orcid.org/0000-0003-1995-5854)
- Chuan‐Jen Hsu (ORCID: https://orcid.org/0000-0002-7548-7736)
- Jacob Shujui Hsu (ORCID: https://orcid.org/0000-0001-7358-5343)
- Yu‐Ting Chiang (ORCID: https://orcid.org/0000-0002-1801-7164)
- Shih‐Feng Tsai
- Yue-Sheng Lu
Institutions
- National Yang Ming Chiao Tung University (TW)
- National Health Research Institutes (TW)
- National Taiwan University (TW)
- Taipei Veterans General Hospital (TW)
- Buddhist Tzu Chi General Hospital (TW)
- National Taiwan University Hospital (TW)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-05-09
- DOI
- https://doi.org/10.1186/s10020-025-01225-2
- Citations
- 1
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Cathay General Hospital
- Ministry of Science and Technology, Taiwan
- National Health Research Institutes
- National Taiwan University Hospital
- National Taiwan University
- Taipei Veterans General Hospital
- National Science and Technology Council