The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Hamilton, Alexander; Bingham, Coralie; McDonald, TJ; et al.Cook, PR; Caswell, Richard; Weedon, Michael N.; Oram, RA; Shields, BM; Shepherd, Maggie H.; Inward, CD; Hamilton-Shield, JP; Kohlhase, J; Ellard, Sian; Hattersley, Andrew T.
Date: 27 November 2013
Publisher
BMJ Publishing Group
Publisher DOI
Related links
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 ...
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.
Institute of Biomedical & Clinical Science
Collections of Former Colleges
Item views 0
Full item downloads 0