الفهرس 
Mutation detection in Kir6.2 in infancy onset diabetes mellitus
ABSTRACTOnly 14 pages are availabe for public view
 |  | from | 257 |  |  |
| | | from | 257 | | |
Abstract
Background: Diabetes mellitus is a rare disorder during the first 2 years of life (Infancy onset diabetes), yet it is an important diagnosis as monogenic disorders are commonly responsible for it, particularly in the first 6 months of life (neonatal diabetes mellitus). Activating mutations of the kir6.2 subunit of the KATP channels of the pancreatic B-cells are among the most common causes of monogenic diabetes in this age group. Methods: Our study included 31 patients, presenting with infancy onset diabetes (diagnosed in the first 2 years of life), and among them there were 7 patients with neonatal diabetes mellitus (NDM), diagnosed during the first 6 months, who were further subdivided into 5 cases of permanent NDM (PNDM) and 2 cases of transient NDM (TNDM). All of the cases were subjected to detailed history, clinical examination, laboratory investigations, as well as to a one year follow-up period. The whole group of patients underwent a molecular genetic study screening for kir6.2 mutations by direct sequencing of the KCNJ11 gene. Results: The molecular study revealed that only one patient with PNDM, had a kir6.2 mutation, representing 3.2% of the whole group of patients in the study, and 20% of PNDM cases. The patient had the R201C mutation, which is a well-known mutation in association with PNDM