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Functional impact of global rare copy number variation in autism spectrum disorders.

Journal article
Authors Dalila Pinto
Alistair T Pagnamenta
Lambertus Klei
Richard Anney
Daniele Merico
Regina Regan
Judith Conroy
Tiago R Magalhaes
Catarina Correia
Brett S Abrahams
Joana Almeida
Elena Bacchelli
Gary D Bader
Anthony J Bailey
Gillian Baird
Agatino Battaglia
Tom Berney
Nadia Bolshakova
Sven Boelte
Patrick F. Bolton
Thomas Bourgeron
Sean Brennan
Jessica Brian
Susan E Bryson
Andrew R Carson
Guillermo Casallo
Jillian Casey
Brian H Y Chung
Lynne Cochrane
Christina Corsello
Emily L Crawford
Andrew Crossett
Cheryl Cytrynbaum
Geraldine Dawson
Maretha de Jonge
Richard Delorme
Irene Drmic
Eftichia Duketis
Frederico Duque
Annette Estes
Penny Farrar
Bridget A Fernandez
Susan E Folstein
Eric Fombonne
Christine M Freitag
John Gilbert
Christopher Gillberg
Joseph T Glessner
Jeremy Goldberg
Andrew Green
Jonathan Green
Stephen J Guter
Hakon Hakonarson
Elizabeth A Heron
Matthew Hill
Richard Holt
Jennifer L Howe
Gillian Hughes
Vanessa Hus
Roberta Igliozzi
Cecilia Kim
Sabine M Klauck
Alexander Kolevzon
Olena Korvatska
Vlad Kustanovich
Clara M Lajonchere
Janine A Lamb
Magdalena Laskawiec
Marion Leboyer
Ann Le Couteur
Bennett L Leventhal
Anath C Lionel
Xiao-Qing Liu
Catherine Lord
Linda Lotspeich
Sabata C Lund
Elena Maestrini
William Mahoney
Carine Mantoulan
Christian R Marshall
Helen McConachie
Christopher J McDougle
Jane McGrath
William M McMahon
Alison Merikangas
Ohsuke Migita
Nancy J Minshew
Ghazala K Mirza
Jeff Munson
Stanley F Nelson
Carolyn Noakes
Abdul Noor
Gudrun Nygren
Guiomar Oliveira
Katerina Papanikolaou
Jeremy R Parr
Barbara Parrini
Tara Paton
Andrew Pickles
Marion Pilorge
Joseph Piven
Chris P Ponting
David J Posey
Annemarie Poustka
Fritz Poustka
Aparna Prasad
Jiannis Ragoussis
Katy Renshaw
Jessica Rickaby
Wendy Roberts
Kathryn Roeder
Bernadette Roge
Michael L Rutter
Laura J Bierut
John P Rice
Jeff Salt
Katherine Sansom
Daisuke Sato
Ricardo Segurado
Ana F Sequeira
Lili Senman
Naisha Shah
Val C Sheffield
Latha Soorya
Ines Sousa
Olaf Stein
Nuala Sykes
Vera Stoppioni
Christina Strawbridge
Raffaella Tancredi
Katherine Tansey
Bhooma Thiruvahindrapduram
Ann P Thompson
Susanne Thomson
Ana Tryfon
John Tsiantis
Herman Van Engeland
John B Vincent
Fred Volkmar
Simon Wallace
Kai Wang
Zhouzhi Wang
Thomas H Wassink
Caleb Webber
Rosanna Weksberg
Kirsty Wing
Kerstin Wittemeyer
Shawn Wood
J. Wu
Brian L Yaspan
Danielle Zurawiecki
Lonnie Zwaigenbaum
Joseph D Buxbaum
Rita M Cantor
Edwin H Cook
Hilary Coon
Michael L Cuccaro
Bernie Devlin
Sean Ennis
Louise Gallagher
Daniel H Geschwind
Michael Gill
Jonathan L Haines
Joachim Hallmayer
Judith Miller
Anthony P Monaco
John I Nurnberger
Andrew D Paterson
Margaret A Pericak-Vance
Gerard D Schellenberg
Peter Szatmari
Astrid M Vicente
Veronica J Vieland
Ellen M Wijsman
Stephen W Scherer
James S Sutcliffe
Catalina Betancur
Published in Nature
Volume 466
Issue 7304
Pages 368-372
ISSN 0028-0836
Publication year 2010
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 368-372
Language en
Keywords Case-Control Studies, Cell Movement, Child, Child Development Disorders, Pervasive, Genetics, Pathology, Physiopathology, Cytoprotection, DNA Copy Number Variations, Genetics, Europe, Ethnology, Gene Dosage, Genetics, Genetic Predisposition to Disease, Genetics, Genome-Wide Association Study, Humans, Signal Transduction, Social Behavior
Subject categories Child and adolescent psychiatry


The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

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