hrp0097p2-238 | Diabetes and Insulin | ESPE2023

CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn) in a pediatric patient with hyperglycemia, elevated HgA1c and negative anti-islet cell antibodies

Minutti Carla , Mora Guido

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...