Author/Authors :
Vakili, Rahim mashhad university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Ghahraman, Martha mashhad university of medical sciences - Avicenna Research Institute - Department of Human Genetic, ايران , Ghaemi, Nosrat mashhad university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Faraji, Batool mashhad university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Hashemi poor, Mahin isfahan university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Ahmadi, Elham kerman university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Abbaszadegan, Mohammad – Reza mashhad university of medical sciences - Avicenna Research Institute - Department of Human Genetic, ايران , Saeidi, Masumeh mashhad university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران , Naghibzadeh, Bahram mashhad university of medical sciences - Department of Pediatric Endocrinology and Metabolism, ايران
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 β-cells. Our results demonstrated that activating mutations in KCNJ11 gene could cause Permanent Neonatal Diabetes Mellitus (PNDM) with onset prior to six months.
Keywords :
Genetic Analysis , Mutations , Neonatal Diabetic , KCNJ11 gene
