Publication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
| dc.contributor.author | Pinto, D | |
| dc.contributor.author | Delaby, E | |
| dc.contributor.author | Merico, D | |
| dc.contributor.author | Barbosa, M | |
| dc.contributor.author | Merikangas, A | |
| dc.contributor.author | Oliveira, G | |
| dc.contributor.author | et al | |
| dc.date.accessioned | 2014-07-30T16:12:11Z | |
| dc.date.available | 2014-07-30T16:12:11Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Am J Hum Genet. 2014;94(5):677-94. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.4/1714 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.subject | Perturbações Globais do Desenvolvimento da Criança | por |
| dc.subject | Variações do Número de Cópias de DNA | por |
| dc.subject | Perturbação Autística | por |
| dc.title | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |
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