Clinical and molecular genetic analysis of Iranian patients with neonatal diabetes demonstrating mutations in KCNJ11 gene

ABSTRACT

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 beta -cells. Our results demonstrated that activating mutations in KCNJ11 gene could cause Permanent Neonatal Diabetes Mellitus [PNDM] with onset prior to six months