Novel <i>KMT5B de novo</i> variants disrupt DNA damage response in intellectual disability
These variants may destabilize KMT5B protein and disrupt the DDR pathway, suggesting a potential mechanism for ID. Our findings expand the genetic spectrum of KMT5B-related disorders and highlight the clinical value of KMT5B screening in ID diagnosis.
Authors
- Cunrun Ye
- Y Z Wang
- Rui Tao (ORCID: https://orcid.org/0009-0007-8561-8182)
- Xianhong Lin
- L J Yang
- Huizhi Huang
- Xiaofeng Hu
Institutions
- University of Science and Technology of China (CN)
- Anhui Medical University (CN)
- Chaohu Hospital of Anhui Medical University (CN)
- People's Hospital of Bishan District (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
- Anhui Provincial Children's Hospital (CN)
- Third People's Hospital of Hefei (CN)
- Anhui Mental Health Center (CN)
- Anshan Hospital (CN)
Publication Details
- Journal
- QJM
- Published
- 2025-12-23
- DOI
- https://doi.org/10.1093/qjmed/hcaf327
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82