The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Author
Hamilton, Alexander J.
Bingham, Coralie
McDonald, Timothy J.
Cook, P. R.
Caswell, Richard C.
Weedon, M. N.
Oram, Richard A.
Shields, Beverley M.
Shepherd, Maggie
Inward, C. D.
Hamilton-Shield, J. P.
Kohlhase, J.
Ellard, Sian
Hattersley, Andrew T.
Date
2014-03Journal
Journal of medical geneticsType
Case ReportResearch Support, Non-U.S. Gov't
Publisher
BMJDOI
10.1136/jmedgenet-2013-102066Rights
Archived with thanks to Journal of medical geneticsMetadata
Show full item recordAbstract
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.