A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus

A 4-month-old male baby was diagnosed with Permanent Neonatal Diabetes Mellitus. We identified a novel missense heterogeneous mutation in the KCNJ11 gene at codon 167 (aTC → tTC) in a region that corresponds to a predicted intracellular gate of the ATP-sensitive potassium channel.