Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2278
Título: Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Autor: Pinto, D.
Delaby, E.
Merico, D.
Barbosa, M.
Merikangas, A.
Klei, L
Thiruvahindrapuram, B.
Xu, X.
Ziman, R.
Wang, Z.
Vorstman, J.A.
Thompson, A.
Regan, R.
Pilorge, M.
Pellecchia, G.
Pagnamenta, A.T.
Oliveira, B.
Marshall, C.R.
Magalhães, T.R.
Lowe, J.K.
Howe, J.L.
Griswold, A.J.
Gilbert, J.
Duketis, E.
Dombroski, B.A.
De Jonge, M.V.
Cuccaro, M.
Crawford, E.L.
Correia, C.T.
Conroy, J.
Conceição, I.C
Chiocchetti, A.G.
Casey, J.P.
Cai, G.
Cabrol, C.
Bolshakova, N.
Bacchelli, E.
Anney, R.
Gallinger, S.
Cotterchio, M.
Casey, G.
Zwaigenbaum, L.
Wittemeyer, K.
Wing, K.
Wallace, S.
van Engeland, H.
Tryfon, A.
Thomson, S.
Soorya, L.
Rogé, B.
Roberts, W.
Poustka, F.
Mouga, S.
Minshew, N.
McInnes, L.A.
McGrew, S.G.
Lord, C.
Leboyer, M.
Le Couteur, A.S.
Kolevzon, A.
Jiménez González, P.
Jacob, S.
Holt, R.
Guter, S.
Green, J.
Green, A.
Gillberg, C.
Fernandez, B.A.
Duque, F.
Delorme, R.
Dawson, G.
Chaste, P.
Café, C.
Brennan, S.
Bourgeron, T.
Bolton, P.F.
Bölte, S.
Bernier, R.
Baird, G.
Bailey, A.J.
Anagnostou, E.
Almeida, J.
Wijsman, E.M.
Vieland, V.J.
Vicente, A.M.
Schellenberg, G.D.
Pericak-Vance, M.
Paterson, A.D.
Parr, J.R.
Oliveira, G.
Nurnberger, J.I.
Monaco, A.P.
Maestrini, E.
Klauck, S.M.
Hakonarson, H.
Haines, J.L.
Geschwind, D.H.
Freitag, C.M.
Folstein, S.E.
Ennis, S.
Coon, H.
Battaglia, A.
Szatmari, P.
Sutcliffe, J.S.
Hallmayer, J.
Gill, M.
Cook, E.H.
Buxbaum, J.D.
Devlin, B.
Gallagher, L.
Betancur, C.
Palavras-chave: Perturbações do Desenvolvimento Infantil e Saúde Mental
Rare copy-number variation
Autism Spectrum Disorders
Autism
Data: Mai-2014
Editora: Elsevier
Citação: Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24
Resumo: 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 were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
URI: http://hdl.handle.net/10400.18/2278
ISSN: 0002-9297
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0002929714001505
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais



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