The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton, Alexander J.
McDonald, Timothy J.
Cook, P. R.
Weedon, M. N.
Oram, R. A.
Shields, Beverley M
Inward, C. D.
Hamilton-Shield, J. P.
Hattersley, Andrew T.
JournalJournal of medical genetics
Research Support, Non-U.S. Gov't
RightsArchived with thanks to Journal of medical genetics
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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.