A novel nonsense mutation <scp>c.747C>G</scp> in the <i>NEUROD1</i> gene detected within a <scp>Chinese</scp> family affected by maturity‐onset diabetes of the young type 6
Highlights Maturity-onset diabetes of the young type 6 (MODY6) is a rare form of monogenic diabetes mellitus due to NEUROD1 gene mutation on chromosome 2q32. A 21-year-old woman exhibiting weight loss, polyuria, and hyperglycemia was initially misdiagnosed with type 1 diabetes mellitus. Considering the early-onset age, a three-generation family history of diabetes, and negative autoimmune antibodies, a MODY diagnosis was suspected. Genetic analysis revealed that she inherited a novel heterozygous nonsense NEUROD1 mutation c.747C>G (p.Tyr249*) from her father. Correct MODY6 diagnosis facilitates appropriate interventions.
Authors
- Huige Shao (ORCID: https://orcid.org/0000-0001-8458-0409)
- Ting Liu (ORCID: https://orcid.org/0009-0002-3792-7865)
- Yuwen Li (ORCID: https://orcid.org/0000-0002-6218-148X)
- Hao Meng (ORCID: https://orcid.org/0000-0002-9672-9706)
- Qian Wen
- Yihu Sun
Institutions
- Changsha Central Hospital (CN)
- University of South China (CN)
Publication Details
- Journal
- Journal of Diabetes
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1111/1753-0407.13607
- Citations
- 2
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Changsha Science and Technology Project