Please use this identifier to cite or link to this item:
Title: Functional impact of global rare copy number variation in autism spectrum disorders
Authors: Pinto, D.
Pagnamenta, A.T.
Klei, L.
Anney, R.
Merico, D.
Regan, R.
Conroy, J.
Magalhaes, T.R.
Correia, C.
Abrahams, B.S.
Almeida, J.
Bacchelli, E.
Bader, G.D.
Bailey, A.J.
Baird, G.
Battaglia, A.
Berney, T.
Bolshakova, N.
Bölte, S.
Bolton, P.F.
Bourgeron, T.
Brennan, S.
Brian, J.
Bryson, S.E.
Carson, A.R.
Casallo, G.
Casey, J.
Chung, B.H.
Cochrane, L.
Corsello, C.
Crawford, E.L.
Crossett, A.
Cytrynbaum, C.
Dawson, G.
de Jonge, M.
Delorme, R.
Drmic, I.
Duketis, E.
Duque, F.
Estes, A.
Farrar, P.
Fernandez, B.A.
Folstein, S.E.
Fombonne, E.
Freitag, C.M.
Gilbert, J.
Gillberg, C.
Glessner, J.T.
Goldberg, J.
Green, A.
Green, J.
Guter, S.J.
Hakonarson, H.
Heron, E.A.
Hill, M.
Holt, R.
Howe, J.L.
Hughes, G.
Hus, V.
Igliozzi, R.
Kim, C.
Klauck, S.M.
Kolevzon, A.
Korvatska, O.
Kustanovich, V.
Lajonchere, C.M.
Lamb, J.A.
Laskawiec, M.
Leboyer, M.
Le Couteur, A.
Leventhal, B.L.
Lionel, A.C.
Liu, X.Q.
Lord, C.
Lotspeich, L.
Lund, S.C.
Maestrini, E.
Mahoney, W.
Mantoulan, C.
Marshall, C.R.
McConachie, H.
McDougle, C.J.
McGrath, J.
McMahon, W.M.
Merikangas, A.
Migita, O.
Minshew, N.J.
Mirza, G.K.
Munson, J.
Nelson, S.F.
Noakes, C.
Noor, A.
Nygren, G.
Oliveira, G.
Papanikolaou, K.
Parr, J.R.
Parrini, B.
Paton, T.
Pickles, A.
Pilorge, M.
Piven, J.
Ponting, C.P.
Posey, D.J.
Poustka, A.
Poustka, F.
Prasad, A.
Ragoussis, J.
Renshaw, K.
Rickaby, J.
Roberts, W.
Roeder, K.
Roge, B.
Rutter, M.L.
Bierut, L.J.
Rice, J.P.
Salt, J.
Sansom, K.
Sato, D.
Segurado, R.
Sequeira, A.F.
Senman, L.
Shah, N.
Sheffield, V.C.
Soorya, L.
Sousa, I.
Stein, O.
Sykes, N.
Stoppioni, V.
Strawbridge, C.
Tancredi, R.
Tansey, K.
Thiruvahindrapduram, B.
Thompson, A.P.
Thomson, S.
Tryfon, A.
Tsiantis, J.
Van Engeland, H.
Vincent, J.B.
Volkmar, F.
Wallace, S.
Wang, K.
Wang, Z.
Wassink, T.H.
Webber, C.
Weksberg, R.
Wing, K.
Wittemeyer, K.
Wood, S.
Wu, J.
Yaspan, B.L.
Zurawiecki, D.
Zwaigenbaum, L.
Buxbaum, J.D.
Cantor, R.M.
Cook, E.H.
Coon, H.
Cuccaro, M.L.
Devlin, B.
Ennis, S.
Gallagher, L.
Geschwind, D.H.
Gill, M.
Haines, J.L.
Hallmayer, J.
Miller, J.
Monaco, A.P.
Nurnberger Jr, J.I.
Paterson, A.D.
Pericak-Vance, M.A.
Schellenberg, G.D.
Szatmari, P.
Vicente, A.M.
Vieland, V.J.
Wijsman, E.M.
Scherer, S.W.
Sutcliffe, J.S.
Betancur, C.
Keywords: Perturbações do Desenvolvimento Infantil e Saúde Mental
Issue Date: 15-Jul-2010
Publisher: Nature Publishing Group
Citation: Nature. 2010 Jul 15;466(7304):368-72. Epub 2010 Jun 9.
Abstract: 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.
Peer review: yes
ISSN: 0028-0836
Publisher Version:
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

Files in This Item:
File Description SizeFormat 
Functional impact of global rare copy number variation in autism spectrum disorders.pdf406,51 kBAdobe PDFView/Open

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.