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). Pathogen...Expand abstract
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articletitle: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
journaltitle: The American Journal of Human Genetics
copyright: Copyright © 2014 The Authors. Published by Elsevier Inc.