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

2.50
Hdl Handle:
http://hdl.handle.net/11287/618094
Title:
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Authors:
Hamilton, Alexander J.; Bingham, Coralie; McDonald, Timothy J. ( 0000-0003-3559-6660 ) ; Cook, P. R.; Caswell, Richard; Weedon, M. N.; Oram, R. A.; Shields, Beverley M; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Inward, C. D.; Hamilton-Shield, J. P.; Kohlhase, J.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.
Abstract:
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.
Publisher:
BMJ
Journal:
Journal of medical genetics
Issue Date:
Mar-2014
URI:
http://hdl.handle.net/11287/618094
DOI:
10.1136/jmedgenet-2013-102066
PubMed ID:
24285859
Additional Links:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=24285859
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text via the publisher's site.
Type:
Journal Article; Case Report; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1468-6244
Appears in Collections:
2014 RD&E publications; Exeter Kidney Unit (Renal); Diabetes/Endocrine Services; Exeter Clinical Laboratory International (Blood Sciences, Genetics, Cellular Pathology & Microbiology); Exeter Clinical Laboratory International (Blood Sciences, Genetics, Cellular Pathology & Microbiology); Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorHamilton, Alexander J.en
dc.contributor.authorBingham, Coralieen
dc.contributor.authorMcDonald, Timothy J.en
dc.contributor.authorCook, P. R.en
dc.contributor.authorCaswell, Richarden
dc.contributor.authorWeedon, M. N.en
dc.contributor.authorOram, R. A.en
dc.contributor.authorShields, Beverley Men
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorInward, C. D.en
dc.contributor.authorHamilton-Shield, J. P.en
dc.contributor.authorKohlhase, J.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2016-08-09T09:18:54Z-
dc.date.available2016-08-09T09:18:54Z-
dc.date.issued2014-03-
dc.identifier.citationThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 2014, 51 (3):165-9 J. Med. Genet.en
dc.identifier.issn1468-6244-
dc.identifier.pmid24285859-
dc.identifier.doi10.1136/jmedgenet-2013-102066-
dc.identifier.urihttp://hdl.handle.net/11287/618094-
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
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=24285859en
dc.rightsArchived with thanks to Journal of medical geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.en
dc.typeJournal Articleen
dc.typeCase Reporten
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalJournal of medical geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text via the publisher's site.en
dc.description.funding098395/Z/12/Z/Wellcome Trust/United Kingdom 11/0004171/Diabetes UK/United Kingdom PDA/02/06/098/Department of Health/United Kingdomen
dc.type.versionPublisheden

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