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Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation

Aims  Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP‐sensitive potassium (KATP) channel, cause both permanent and transient neonatal diabetes. Identification of KCNJ11 mutations has important therapeutic implications, as many patients can replace insulin injections with sulphonylurea tablets. The aim was to determine if a KCNJ11 mutation was responsible for a dominantly inherited form of diabetes mellitus, showing variability in age at diagnosis, in an Italian family.