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

dc.contributor.authorHamilton, Alexander
dc.contributor.authorBingham, Coralie
dc.contributor.authorMcDonald, TJ
dc.contributor.authorCook, PR
dc.contributor.authorCaswell, Richard
dc.contributor.authorWeedon, Michael N.
dc.contributor.authorOram, RA
dc.contributor.authorShields, BM
dc.contributor.authorShepherd, Maggie H.
dc.contributor.authorInward, CD
dc.contributor.authorHamilton-Shield, JP
dc.contributor.authorKohlhase, J
dc.contributor.authorEllard, Sian
dc.contributor.authorHattersley, Andrew T.
dc.date.accessioned2014-02-06T12:05:18Z
dc.date.issued2013-11-27
dc.description.abstractMutation 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.en_GB
dc.description.sponsorshipThis 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).en_GB
dc.description.sponsorshipWellcome Trusten_GB
dc.identifier.citationJournal of Medical Genetics, 2013, Nov 27en_GB
dc.identifier.doi10.1136/jmedgenet-2013-102066
dc.identifier.otherjmedgenet-2013-102066
dc.identifier.urihttp://hdl.handle.net/10871/14503
dc.publisherBMJ Publishing Groupen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/24285859en_GB
dc.rightsThis is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/en_GB
dc.subjectCalcium and Boneen_GB
dc.subjectClinical Geneticsen_GB
dc.subjectDiabetesen_GB
dc.subjectMetabolic Disordersen_GB
dc.subjectRenal Medicineen_GB
dc.titleThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotypeen_GB
dc.date.available2014-02-06T12:05:18Z
dc.identifier.issn0022-2593
dc.descriptiontypes: JOURNAL ARTICLEen_GB
dc.identifier.journalJournal of Medical Geneticsen_GB


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