<i>WFS1</i> gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report
This case identifies <i>WFS1 c.986T>C (p.Phe329Ser)</i> as a novel pathogenic variant causing Wolfram syndrome. It highlights the importance of early genetic testing in pediatric patients with atypical diabetes presentations to enable timely diagnosis, individualized therapy, and comprehensive family support.
Authors
- Weiwei Wu (ORCID: https://orcid.org/0000-0002-5227-1553)
- Xinping Yang (ORCID: https://orcid.org/0000-0003-4086-4180)
- Wanling Deng (ORCID: https://orcid.org/0000-0002-4018-5578)
- Ai-Min Gao
- Chang-An Ma (ORCID: https://orcid.org/0000-0002-8694-0196)
- Yu Liu (ORCID: https://orcid.org/0000-0001-5563-6397)
Institutions
- Guizhou Cancer Hospital (CN)
- The First People's Hospital of Guiyang (CN)
Publication Details
- Journal
- World Journal of Diabetes
- Published
- 2025-08-14
- DOI
- https://doi.org/10.4239/wjd.v16.i8.108946
- Citations
- 1
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 2.01