Authors
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob AS Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T Pagnamenta, Bárbara Oliveira, Christian R Marshall, Tiago R Magalhaes, Jennifer K Lowe, Jennifer L Howe, Anthony J Griswold, John Gilbert, Eftichia Duketis, Beth A Dombroski, Maretha V De Jonge, Michael Cuccaro, Emily L Crawford, Catarina T Correia, Judith Conroy, Inês C Conceição, Andreas G Chiocchetti, Jillian P Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman Van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L Alison McInnes, Susan G McGrew, Catherine Lord, Marion Leboyer, Ann S Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M Wijsman, Veronica J Vieland, Astrid M Vicente, Gerard D Schellenberg, Margaret Pericak-Vance, Andrew D Paterson, Jeremy R Parr, Guiomar Oliveira, John I Nurnberger, Anthony P Monaco, Elena Maestrini, Sabine M Klauck, Hakon Hakonarson, Jonathan L Haines, Daniel H Geschwind, Christine M Freitag, Susan E Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H Cook, Joseph D Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W Scherer
Publication date
2014/5/1
Journal
The American Journal of Human Genetics
Volume
94
Issue
5
Pages
677-694
Publisher
Elsevier
Description
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p=1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio=12.62, p=2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and …
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Scholar articles
D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas… - The American Journal of Human Genetics, 2014