Article
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
Diabetes - 1 Jun 2008
Kapoor Ritika R, Locke Jonathan, Colclough Kevin, Wales Jerry, Conn Jennifer J, Hattersley Andrew T, Ellard Sian, Hussain Khalid
Abstract excerpt
OBJECTIVE: Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor (HNF)-4alpha are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic beta-cells. HNF-4alpha has a key role in regulating the multiple transcriptional factor networks in the islet. Recently,...
Topics
- Age of Onset
- Birth Weight
- DNA Transposable Elements
- Diabetes Mellitus, Type 2
- Female
- Fetal Macrosomia
- Frameshift Mutation
- Genetic Carrier Screening
- Hepatocyte Nuclear Factor 4
- Humans
- Hyperinsulinism
- Hypoglycemia
- Infant