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