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A thorough assessment of benign genetic variability in GRN and MAPT
Author(s) -
Guerreiro Rita J.,
Washecka Nicole,
Hardy John,
Singleton Andrew
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21152
Subject(s) - biology , genetics , gene , mutation , pathogenicity , genetic variation , genome , computational biology , microbiology and biotechnology
Mutations in APP , PSEN1 , MAPT and GRN are 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 GRN and MAPT in 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.