Journal Article


Stephen W Scherer
Catalina Betancur
Louise Gallagher
Bernie Devlin
Joseph D Buxbaum
Edwin H Cook
Michael Gill
Joachim Hallmayer
James S Sutcliffe
Peter Szatmari
and 102 others



metabolic networks and pathways sequence deletion female male child development disorders pervasive pedigree genetics dna copy number variations humans multigene family child gene regulatory networks

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. (2013)

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.
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Full list of authors on original publication

Stephen W Scherer, Catalina Betancur, Louise Gallagher, Bernie Devlin, Joseph D Buxbaum, Edwin H Cook, Michael Gill, Joachim Hallmayer, James S Sutcliffe, Peter Szatmari and 102 others

Experts in our system

Louise Gallagher
Trinity College Dublin
Total Publications: 59
Michael Gill
Trinity College Dublin
Total Publications: 273