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
Weedon, M. N.
Oram, R. 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
Journal ArticleCase Report
Research 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.