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- Title
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
- Authors
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
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 defined.
- Publication
Journal of medical genetics, 2014, Vol 51, Issue 3, p165
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2013-102066