Document Type: Case Report
Mashhad University of Medical Sciences, Mashhad, Iran.
Isfahan University of Medical Sciences, Isfahan, Iran.
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.