Hepatocyte Nuclear Factor 4α Gene Mutation Associated with Familial Neonatal Hyperinsulinism and Maturity-Onset Diabetes of the Young
Copyright policy )Hepatocyte Nuclear Factor 4α Gene Mutation Associated with Familial Neonatal Hyperinsulinism and Maturity-Onset Diabetes of the Young
Neonatal macrosomia and hyperinsulinemic hypoglycemia with strong family history of diabetes may indicate monogenic diabetes. Here we report a family in which 4 individuals in 3 generations were found to have a mutation (Arg80Gln) in hepatocyte nuclear factor 4α. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.
- Brown University United States
- Rhode Island Hospital United States
- Children's Hospital of Philadelphia United States
Adolescent, DNA, Polymerase Chain Reaction, Pedigree, Nesidioblastosis, Mutation, Diabetes Mellitus, Humans, Congenital Hyperinsulinism, Female, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 1-alpha
Adolescent, DNA, Polymerase Chain Reaction, Pedigree, Nesidioblastosis, Mutation, Diabetes Mellitus, Humans, Congenital Hyperinsulinism, Female, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 1-alpha
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