What Conditions Are Associated with KCNJ11 Mutations?
Mutations in the KCNJ11 gene are most commonly associated with forms of diabetes that manifest in infancy or early childhood. The two primary conditions are:
1. Neonatal Diabetes Mellitus (NDM): This is a rare form of diabetes that appears within the first six months of life. It can be transient (TNDM) or permanent (PNDM). 2. Maturity-Onset Diabetes of the Young (MODY): Although less common, certain KCNJ11 mutations can also cause this form of diabetes, which typically presents in adolescence or early adulthood.
