TY  - JOUR
A1  - Pinto, Dalila
A1  - Delaby, Elsa
A1  - Merico, Daniele
A1  - Barbosa, Mafalda
A1  - Merikangas, Alison
A1  - Klei, Lambertus
A1  - Thiruvahindrapuram, Bhooma
A1  - Xu, Xiao
A1  - Ziman, Robert
A1  - Wang, Zhuozhi
A1  - Vorstman, Jacob A. S.
A1  - Thompson, Ann P.
A1  - Regan, Regina
A1  - Pilorge, Marion
A1  - Pellecchia, Giovanna
A1  - Pagnamenta, Alistair T.
A1  - Oliveira, Bárbara
A1  - Marshall, Christian R.
A1  - Magalhães, Tiago R.
A1  - Lowe, Jennifer K.
A1  - Howe, Jennifer L.
A1  - Griswold, Anthony J.
A1  - Gilbert, John
A1  - Duketis, Eftichia
A1  - Dombroski, Beth A.
A1  - Jonge, Maretha de
A1  - Cuccaro, Michael L.
A1  - Crawford, Emily L.
A1  - Correia, Catarina T.
A1  - Conroy, Judith
A1  - Conceição, Inȇs C.
A1  - Geburtig-Chiocchetti, Andreas
A1  - Casey, Jillian P.
A1  - Cai, Guiqing
A1  - Cabrol, Christelle
A1  - Bolshakova, Nadia
A1  - Bacchelli, Elena
A1  - Anney, Richard
A1  - Gallinger, Steven
A1  - Cotterchio, Michelle
A1  - Casey, Graham
A1  - Zwaigenbaum, Lonnie
A1  - Wittemeyer, Kerstin
A1  - Wing, Kirsty
A1  - Wallace, Simon
A1  - Engeland, Herman van
A1  - Tryfon, Ana
A1  - Thomson, Susanne
A1  - Soorya, Latha
A1  - Roge, Bernadette
A1  - Roberts, Wendy
A1  - Poustka, Fritz
A1  - Mouga, Susana
A1  - Minshew, Nancy J.
A1  - McInnes, L. Alison
A1  - McGrew, Susan G.
A1  - Lord, Catherine
A1  - Leboyer, Marion
A1  - Le Couteur, Ann
A1  - Kolevzon, Alexander
A1  - González, Patricia Jiménez
A1  - Jacob, Suma
A1  - Holt, Richard
A1  - Guter, Stephen J.
A1  - Green, Jonathan
A1  - Green, Andrew
A1  - Gillberg, Christopher
A1  - Fernandez, Bridget A.
A1  - Duque, Frederico
A1  - Delorme, Richard
A1  - Dawson, Geraldine
A1  - Chaste, Pauline
A1  - Café, Cátia
A1  - Brennan, Sean
A1  - Bourgeron, Thomas
A1  - Bolton, Patrick F.
A1  - Bölte, Sven
A1  - Bernier, Raphael
A1  - Baird, Gillian
A1  - Bailey, Anthony J.
A1  - Anagnostou, Evdokia
A1  - Almeida, Joana
A1  - Wijsman, Ellen M.
A1  - Vieland, Veronica J.
A1  - Vicente, Astrid M.
A1  - Schellenberg, Gerard D.
A1  - Pericak-Vance, Margaret Ann
A1  - Paterson, Andrew D.
A1  - Parr, Jeremy R.
A1  - Oliveira, Guiomar
A1  - Nurnberger, John I.
A1  - Monaco, Anthony P.
A1  - Maestrini, Elena
A1  - Klauck, Sabine M.
A1  - Hakonarson, Hakon
A1  - Haines, Jonathan L.
A1  - Geschwind, Daniel H.
A1  - Freitag, Christine M.
A1  - Folstein, Susan E.
A1  - Ennis, Sean
A1  - Coon, Hilary
A1  - Battaglia, Agatino
A1  - Szatmari, Peter
A1  - Sutcliffe, James S.
A1  - Hallmayer, Joachim
A1  - Gill, Michael
A1  - Cook, Edwin H.
A1  - Buxbaum, Joseph D.
A1  - Devlin, Bernie
A1  - Gallagher, Louise
A1  - Betancur, Catalina
A1  - Scherer, Stephen W.
T1  - Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
T2  - The American journal of human genetics
N2  - 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.
Y1  - 2014
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/35397
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-353971
SN  - 1537-6605
SN  - 0002-9297
N1  - This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
VL  - 94
IS  - 5
SP  - 677
EP  - 694
PB  - Cell Press
CY  - New York, NY [u.a.]
ER  -