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Article

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

Journal of medical genetics - 1 Mar 2014

Hamilton Alexander J, Bingham Coralie, McDonald Timothy J, Cook Paul R, Caswell Richard C, Weedon Michael N, Oram Richard A, Shields Beverley M, Shepherd Maggie, Inward Carol D, Hamilton-Shield Julian P, Kohlhase Jürgen, Ellard Sian, Hattersley Andrew T

Abstract excerpt

BACKGROUND: Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cause has been...

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Identifiers

PMID: 24285859
DOI: 10.1136/jmedgenet-2013-102066
PMCID: PMC3932761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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