Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1714
Título: Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Autor: Pinto, D
Delaby, E
Merico, D
Barbosa, M
Merikangas, A
Oliveira, G
et al
Palavras-chave: Perturbações Globais do Desenvolvimento da Criança
Variações do Número de Cópias de DNA
Perturbação Autística
Data: 2014
Editora: Elsevier
Citação: Am J Hum Genet. 2014;94(5):677-94.
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.
Peer review: yes
URI: http://hdl.handle.net/10400.4/1714
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