A Recessive Mutation in the Insulin Gene in Neonatal Diabetes

Abstract

Neonatal diabetes (ND) is a form of monogenic diabetes that occurs during the first 6 months of life. A recent study estimated its minimum incidence as 1 in 90 000 population (1). ND is clinically divided in two forms: transient ND (TND) and permanent ND (PND) which is caused by several genetic defects (2). Mutations in KCNJ11, ABCC8, and insulin gene (INS) are the main causes of PND (2). KCNJ11 and ABCC8 encode the subunits of the ATP-sensitive potassium channel (K(ATP)) of the pancreatic β-cells. Loss of insulin secretion occurs due to activating mutations of these subunits (3). INS mutations are associated with PND and other clinical conditions such as type 1b diabetes, maturity onset diabetes of the youth (MODY), type 2 diabetes, and TND (4). Here, we report a case of PND due to recessive inheritance INS mutation accompanied by diabetic ketoacidosis (DKA). Case Report