Clinical and Molecular Genetic Analysis of Iranian Neonatal Diabetic Cases Demonstrating Mutations in KCNJ11 gene

We screened the kcnj11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. a novel mutation w68r (no locus, gu170814; 2009) was identified in the kir6.2, the pore-forming subunit of the katp channels from pancreatic β-cells. our results demonstrated that activating mutations in kcnj11 gene could cause permanent neonatal diabetes mellitus (pndm) with onset prior to six months.