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- Title
An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
- Authors
Lucchesi, Daniela; Randazzo, Emioli; Del Prato, Stefano; Bianchi, Cristina
- Abstract
Maturity Onset Diabetes of the Young (MODY) is a monogenic autosomal dominant disorder affecting 1-5 % of all patients with diabetes mellitus. In Caucasians, GCK and HNF1A mutations are the most common cause of MODY. Here, we report two family members carrying a genetic variant of both GCK and HNF1A gene and their nine year clinical follow-up. Our report urges physicians to be cautious when variants in two genes are found in a single patient and suggests that collaboration with MODY genetics experts is necessary for correct diagnosis and treatment.
- Subjects
MATURITY onset diabetes of the young; GENETIC variation; DIABETES
- Publication
Acta Diabetologica, 2024, Vol 61, Issue 1, p131
- ISSN
0940-5429
- Publication type
Article
- DOI
10.1007/s00592-023-02171-3