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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

2014-05Journal article Restricted access
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dc.contributor.authorPinto, D.
dc.contributor.authorDelaby, E.
dc.contributor.authorMerico, D.
dc.contributor.authorBarbosa, M.
dc.contributor.authorMerikangas, A.
dc.contributor.authorKlei, L
dc.contributor.authorThiruvahindrapuram, B.
dc.contributor.authorXu, X.
dc.contributor.authorZiman, R.
dc.contributor.authorWang, Z.
dc.contributor.authorVorstman, J.A.
dc.contributor.authorThompson, A.
dc.contributor.authorRegan, R.
dc.contributor.authorPilorge, M.
dc.contributor.authorPellecchia, G.
dc.contributor.authorPagnamenta, A.T.
dc.contributor.authorOliveira, B.
dc.contributor.authorMarshall, C.R.
dc.contributor.authorMagalhães, T.R.
dc.contributor.authorLowe, J.K.
dc.contributor.authorHowe, J.L.
dc.contributor.authorGriswold, A.J.
dc.contributor.authorGilbert, J.
dc.contributor.authorDuketis, E.
dc.contributor.authorDombroski, B.A.
dc.contributor.authorDe Jonge, M.V.
dc.contributor.authorCuccaro, M.
dc.contributor.authorCrawford, E.L.
dc.contributor.authorCorreia, C.T.
dc.contributor.authorConroy, J.
dc.contributor.authorConceição, I.C
dc.contributor.authorChiocchetti, A.G.
dc.contributor.authorCasey, J.P.
dc.contributor.authorCai, G.
dc.contributor.authorCabrol, C.
dc.contributor.authorBolshakova, N.
dc.contributor.authorBacchelli, E.
dc.contributor.authorAnney, R.
dc.contributor.authorGallinger, S.
dc.contributor.authorCotterchio, M.
dc.contributor.authorCasey, G.
dc.contributor.authorZwaigenbaum, L.
dc.contributor.authorWittemeyer, K.
dc.contributor.authorWing, K.
dc.contributor.authorWallace, S.
dc.contributor.authorvan Engeland, H.
dc.contributor.authorTryfon, A.
dc.contributor.authorThomson, S.
dc.contributor.authorSoorya, L.
dc.contributor.authorRogé, B.
dc.contributor.authorRoberts, W.
dc.contributor.authorPoustka, F.
dc.contributor.authorMouga, S.
dc.contributor.authorMinshew, N.
dc.contributor.authorMcInnes, L.A.
dc.contributor.authorMcGrew, S.G.
dc.contributor.authorLord, C.
dc.contributor.authorLeboyer, M.
dc.contributor.authorLe Couteur, A.S.
dc.contributor.authorKolevzon, A.
dc.contributor.authorJiménez González, P.
dc.contributor.authorJacob, S.
dc.contributor.authorHolt, R.
dc.contributor.authorGuter, S.
dc.contributor.authorGreen, J.
dc.contributor.authorGreen, A.
dc.contributor.authorGillberg, C.
dc.contributor.authorFernandez, B.A.
dc.contributor.authorDuque, F.
dc.contributor.authorDelorme, R.
dc.contributor.authorDawson, G.
dc.contributor.authorChaste, P.
dc.contributor.authorCafé, C.
dc.contributor.authorBrennan, S.
dc.contributor.authorBourgeron, T.
dc.contributor.authorBolton, P.F.
dc.contributor.authorBölte, S.
dc.contributor.authorBernier, R.
dc.contributor.authorBaird, G.
dc.contributor.authorBailey, A.J.
dc.contributor.authorAnagnostou, E.
dc.contributor.authorAlmeida, J.
dc.contributor.authorWijsman, E.M.
dc.contributor.authorVieland, V.J.
dc.contributor.authorVicente, A.M.
dc.contributor.authorSchellenberg, G.D.
dc.contributor.authorPericak-Vance, M.
dc.contributor.authorPaterson, A.D.
dc.contributor.authorParr, J.R.
dc.contributor.authorOliveira, G.
dc.contributor.authorNurnberger, J.I.
dc.contributor.authorMonaco, A.P.
dc.contributor.authorMaestrini, E.
dc.contributor.authorKlauck, S.M.
dc.contributor.authorHakonarson, H.
dc.contributor.authorHaines, J.L.
dc.contributor.authorGeschwind, D.H.
dc.contributor.authorFreitag, C.M.
dc.contributor.authorFolstein, S.E.
dc.contributor.authorEnnis, S.
dc.contributor.authorCoon, H.
dc.contributor.authorBattaglia, A.
dc.contributor.authorSzatmari, P.
dc.contributor.authorSutcliffe, J.S.
dc.contributor.authorHallmayer, J.
dc.contributor.authorGill, M.
dc.contributor.authorCook, E.H.
dc.contributor.authorBuxbaum, J.D.
dc.contributor.authorDevlin, B.
dc.contributor.authorGallagher, L.
dc.contributor.authorBetancur, C.
dc.date.accessioned2014-05-23T11:02:23Z
dc.date.available2014-05-23T11:02:23Z
dc.date.issued2014-05
dc.description.abstractRare 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.por
dc.identifier.citationAm J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24por
dc.identifier.issn0002-9297
dc.identifier.otherdoi: 10.1016/j.ajhg.2014.03.018.
dc.identifier.urihttp://hdl.handle.net/10400.18/2278
dc.language.isoengpor
dc.publisherElsevierpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0002929714001505por
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.subjectRare copy-number variationpor
dc.subjectAutism Spectrum Disorderspor
dc.subjectAutismpor
dc.titleConvergence of genes and cellular pathways dysregulated in autism spectrum disorderspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage694por
oaire.citation.startPage677por
oaire.citation.titleAmerican Journal of Human Geneticspor
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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