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

Vakili, Rahim and Ghahraman, Marta and Ghaemi, Nosrat and Faraji, Batool and Hashemi poor, Mahin and Ahmadi, Elham and Abbaszadeghan, Mohamad Reza and Saeidi, Masumeh and Naghibzadeh, Bahram (2012) Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene. Iranian Journal of Neonatology IJN, 3 (2). pp. 85-90.

[img]
Preview
Text
IJN_Volume 3_Issue 2_Pages 85-90.pdf

Download (416kB) | Preview
Official URL: http://ijn.mums.ac.ir/article_271.html

Abstract

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.

Item Type: Article
Subjects: WS Pediatrics
Divisions: Journals > Iranian J Neonatology
Depositing User: ijn ijn
Date Deposited: 25 Sep 2017 14:05
Last Modified: 25 Sep 2017 14:05
URI: http://eprints.mums.ac.ir/id/eprint/3846

Actions (login required)

View Item View Item