The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Weedon, Michael N.
Shepherd, Maggie H.
Hattersley, Andrew T.
Journal of Medical Genetics
BMJ Publishing Group
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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.
This article presents independent research supported by the National Institute for Health Research (NIHR) Exeter Clinical Research Facility. The research is funded by a Wellcome Trust Senior Investigator Award, (grant number 098395/Z/12/Z).
types: JOURNAL ARTICLE
Journal of Medical Genetics, 2013, Nov 27