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A thorough assessment of benign genetic variability in GRN and MAPT

2009; Wiley; Volume: 31; Issue: 2 Linguagem: Inglês

10.1002/humu.21152

1098-1004

Rita Guerreiro, Nicole Washecka, John Hardy, Andrew Singleton,

Genomics and Rare Diseases

Human MutationVolume 31, Issue 2 p. E1126-E1140 Mutation in BriefFree Access A thorough assessment of benign genetic variability in GRN and MAPT† Rita J. Guerreiro, Corresponding Author Rita J. Guerreiro portalegrer@nia.nih.gov Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USA Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, PortugalMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH. Room 1A-1010, Porter Neuroscience Research Center, 35 Lincoln Drive. Bethesda, MD 20892, USA, Fax: 301 451 5466Search for more papers by this authorNicole Washecka, Nicole Washecka Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USASearch for more papers by this authorJohn Hardy, John Hardy Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London, United KingdomSearch for more papers by this authorAndrew Singleton, Andrew Singleton Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USASearch for more papers by this author Rita J. Guerreiro, Corresponding Author Rita J. Guerreiro portalegrer@nia.nih.gov Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USA Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, PortugalMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH. Room 1A-1010, Porter Neuroscience Research Center, 35 Lincoln Drive. Bethesda, MD 20892, USA, Fax: 301 451 5466Search for more papers by this authorNicole Washecka, Nicole Washecka Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USASearch for more papers by this authorJohn Hardy, John Hardy Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London, United KingdomSearch for more papers by this authorAndrew Singleton, Andrew Singleton Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USASearch for more papers by this author First published: 17 December 2009 https://doi.org/10.1002/humu.21152Citations: 17 † Communicated by Christine Van Broeckhoven AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Mutations in APP, PSEN1, MAPTand GRNare the most common genetic causes of dementia. The previous miss-assignment of pathogenicity to benign variants in these genes stresses the importance of discerning between disease causing mutations and benign variants with no pathogenic effect on the function of the respective protein. In this study we sequenced GRNand MAPTin 282 samples from the Centre d'Etude du Polymorphisme Humain - Human Genome Diversity Cell Line Panel, in order to identify benign variants that could otherwise be mistaken for pathogenic mutations. We found sixteen different non-synonymous changes, eleven of which are novel variants. © 2009 Wiley-Liss, Inc. Citing Literature Volume31, Issue2February 2010Pages E1126-E1140 RelatedInformation