Ontology highlight
ABSTRACT:
SUBMITTER: Nicolas G
PROVIDER: S-EPMC4930083 | biostudies-other | 2016 May
REPOSITORIES: biostudies-other
Nicolas Gaël G Wallon David D Charbonnier Camille C Quenez Olivier O Rousseau Stéphane S Richard Anne-Claire AC Rovelet-Lecrux Anne A Coutant Sophie S Le Guennec Kilan K Bacq Delphine D Garnier Jean-Guillaume JG Olaso Robert R Boland Anne A Meyer Vincent V Deleuze Jean-François JF Munter Hans Markus HM Bourque Guillaume G Auld Daniel D Montpetit Alexandre A Lathrop Mark M Guyant-Maréchal Lucie L Martinaud Olivier O Pariente Jérémie J Rollin-Sillaire Adeline A Pasquier Florence F Le Ber Isabelle I Sarazin Marie M Croisile Bernard B Boutoleau-Bretonnière Claire C Thomas-Antérion Catherine C Paquet Claire C Sauvée Mathilde M Moreaud Olivier O Gabelle Audrey A Sellal François F Ceccaldi Mathieu M Chamard Ludivine L Blanc Frédéric F Frebourg Thierry T Campion Dominique D Hannequin Didier D
European journal of human genetics : EJHG 20150805 5
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 depth of coverage: 90 EOAD patients with family history of LOAD and no incidence of EO ...[more]