Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young

Mia M Pingul; Nkecha Hughes; Anthony Wu; Charles A Stanley; Philip A Gruppuso

doi:10.1016/j.jpeds.2011.01.003

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young

J Pediatr. 2011 May;158(5):852-4. doi: 10.1016/j.jpeds.2011.01.003. Epub 2011 Feb 24.

Authors

Mia M Pingul¹, Nkecha Hughes, Anthony Wu, Charles A Stanley, Philip A Gruppuso

Affiliation

¹ Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI, USA.

PMID: 21353246
DOI: 10.1016/j.jpeds.2011.01.003

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.

Publication types

Case Reports

MeSH terms

Adolescent
Congenital Hyperinsulinism
DNA / genetics*
Diabetes Mellitus / blood
Diabetes Mellitus / genetics*
Female
Genetic Predisposition to Disease
Hepatocyte Nuclear Factor 1-alpha / genetics*
Humans
Mutation*
Nesidioblastosis / blood
Nesidioblastosis / genetics
Pedigree
Polymerase Chain Reaction

Substances

Hepatocyte Nuclear Factor 1-alpha
DNA