A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia

•Inactivating mutations in the genes encoding KATP channel (ABCC8 and KCNJ11) have been identified as causal for CHI.•We report a novel homozygous recessive KNCJ11 mutation predisposing to CHI, possibly by impairing KATP channel trafficking.•Identifiying clinically relevant mutations is pivotal for developing personalized medicines for patients with such mutations.