Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21353246.
- Also identified by DOI 10.1016/j.jpeds.2011.01.003.
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Abstract
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.
Medical subject headings
- DNA
- Diabetes Mellitus
- Hepatocyte Nuclear Factor 1-alpha
- Mutation