title: Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.
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.
authors.affiliation: Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI, USA.
authors.forename: Mia M
authors.initials: MM
authors.lastname: Pingul
authors.forename: Nkecha
authors.initials: N
authors.lastname: Hughes
authors.forename: Anthony
authors.initials: A
authors.lastname: Wu
authors.forename: Charles A
authors.initials: CA
authors.lastname: Stanley
authors.forename: Philip A
authors.initials: PA
authors.lastname: Gruppuso
mesh_terms: D000293:Adolescent; D044903:Congenital Hyperinsulinism; D004247:DNA / Q000235:genetics*; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D009154:Mutation; D046768:Nesidioblastosis / Q000097:blood / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D004247:DNA