الفهرس | Only 14 pages are availabe for public view |
Abstract Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children |