Article
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
European journal of human genetics : EJHG - 1 May 2016
Nicolas Gaël, Wallon David, Charbonnier Camille, Quenez Olivier, Rousseau Stéphane, Richard Anne-Claire, Rovelet-Lecrux Anne, Coutant Sophie, Le Guennec Kilan, Bacq Delphine, Garnier Jean-Guillaume, Olaso Robert, Boland Anne, Meyer Vincent, Deleuze Jean-François, Munter Hans Markus, Bourque Guillaume, Auld Daniel, Montpetit Alexandre, Lathrop Mark, Guyant-Maréchal Lucie, Martinaud Olivier, Pariente Jérémie, Rollin-Sillaire Adeline, Pasquier Florence, Le Ber Isabelle, Sarazin Marie, Croisile Bernard, Boutoleau-Bretonnière Claire, Thomas-Antérion Catherine, Paquet Claire, Sauvée Mathilde, Moreaud Olivier, Gabelle Audrey, Sellal François, Ceccaldi Mathieu, Chamard Ludivine, Blanc Frédéric, Frebourg Thierry, Campion Dominique, Hannequin Didier
Abstract excerpt
Causative variants in APP, PSEN1 or PSEN2 account for a majority of cases of autosomal dominant early-onset Alzheimer disease (ADEOAD, onset before 65 years). Variant detection rates in other EOAD patients, that is, with family history of late-onset AD (LOAD) (and no incidence of EOAD) and sporadic cases might be much lower. We analyzed the genomes from 264 patients using whole-exome sequencing (WES) with high...
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