Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene

Document Type : Case Report


1 Mashhad University of Medical Sciences, Mashhad, Iran.

2 Isfahan University of Medical Sciences, Isfahan, Iran.

3 Kerman University of Medical Sciences, Kerman, Iran.


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.