The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

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Authors
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.
Journal
Journal of medical genetics
Type
Case Report
Research Support, Non-U.S. Gov't
Publisher
BMJ
Rights
Archived with thanks to Journal of medical genetics
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.
Citation
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 2014, 51 (3):165-9 J. Med. Genet.
Note
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