Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo (1) , Matthew Jensen (1) , Andrew Polyak (1) , Jill Rosenfeld (2) , Katrin Männik (3) , Arjun Krishnan (4) , Elizabeth Mccready (5) , Olivier Pichon (6) , Cédric Le Caignec (6) , Anke van Dijck (7) , Kate Pope (8) , Els Voorhoeve (9) , Jieun Yoon (1) , Paweł Stankiewicz (2) , Sau Wai Cheung (2) , Damian Pazuchanics (1) , Emily Huber (1) , Vijay Kumar (1) , Rachel Kember (10) , Francesca Mari (11) , Aurora Curró , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Luana Mandarà , Marie Vincent (6) , Mathilde Nizon (6) , Sandra Mercier (6) , Claire Bénéteau (6) , Sophie Blesson (12) , Dominique Martin-Coignard (13) , Anne-Laure Mosca-Boidron (14) , Jean-Hubert Caberg (15) , Maja Bucan (16) , Susan Zeesman (5) , Małgorzata Nowaczyk (5) , Mathilde Lefebvre (17) , Laurence Faivre (17) , Patrick Callier (14) , Cindy Skinner (18) , Boris Keren (19) , Charles Perrine (19) , Paolo Prontera , Nathalie Marle (14) , Alessandra Renieri , Alexandre Reymond (3) , R Frank Kooy (7) , Bertrand Isidor (6) , Charles Schwartz (20) , Corrado Romano , Erik Sistermans (9) , David Amor (8) , Joris Andrieux (21) , Santhosh Girirajan

1 Penn State - Pennsylvania State University
2 BCM - Baylor College of Medicine
3 CIG - Center for Integrative Genomics - Institute of Bioinformatics, Génopode
4 Michigan State University [East Lansing]
5 McMaster University [Hamilton, Ontario]
6 Service de génétique médicale - Unité de génétique clinique [Nantes]
7 UZA - Antwerp University Hospital [Edegem]
8 MCRI - Murdoch Children's Research Institute
9 Department of Clinical Genetics (Academic Medical Center, University of Amsterdam)
10 Perelman School of Medicine
11 Medical Genetics
12 Service de Génétique Médicale, Hôpital Bretonneau, Tours
13 Laboratoire de génétique médicale et cytogénétique [Le Mans]
14 Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon]
15 CHU-Liège - Centre Hospitalier Universitaire de Liège
16 University of Pennsylvania [Philadelphia]
17 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
18 Greenwood Genetic Center
19 CHU Pitié-Salpêtrière [AP-HP]
20 Greenwood Genetic Center [Greenwood, South Carolina, USA]
21 Institut de Génétique Médicale [CHRU Lille]

To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants.

Mots clés: 16p11.2 deletion; CNV; autism; modifier; phenotypic variability

Domaines: Sciences du Vivant [q-bio]; Génétique; Génétique humaine

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill Rosenfeld, Katrin Männik, et al.. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genetics in Medicine, In press, ⟨10.1038/s41436-018-0266-3⟩. ⟨hal-02059381⟩