A thorough assessment of benign genetic variability in GRN and MAPT |
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| Authors: | Rita J Guerreiro Nicole Washecka John Hardy Andrew Singleton |
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| Institution: | 1. Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USA;2. Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal;3. Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London, United Kingdom |
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| 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. |
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| Keywords: | GRN MAPT benign variants pathogenicity |
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