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Article

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

The Journal of pediatrics - 1 May 2011

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

Abstract excerpt

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.

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Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.PMID 21353246Read ↗

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.Semantic proximity Read ↗

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