An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

Autor:	Lucchesi, Daniela, Randazzo, Emioli, Del Prato, Stefano, Bianchi, Cristina
Předmět:	MATURITY onset diabetes of the young GENETIC variation DIABETES
Zdroj:	Acta Diabetologica; Jan2024, Vol. 61 Issue 1, p131-134, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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