CNV Burden in Genes and Loci Implicated in ASD and/or ID
CNV data from 2,147 European affected subjects and 2,640 European control subjects were analyzed for overlap with genes and loci implicated in ASD and/or ID (results including non-European affected and control subjects are shown in Figure S1). Only CNVs affecting autosomal-dominant and X-linked dominant genes or loci in both genders (132 genes, 56 loci), as well as X-linked recessive genes or loci in males (52 genes, 2 loci), were considered (“all CNV”). Exonic ≥30 kb CNVs affecting an ASD- and/or ID-associated gene or overlapping at least 50% of the target loci were selected for further analysis. Rare CNVs were divided into three categories—pathogenic, uncertain clinical significance, or benign—without regard to affected status.
(A) Percentage of individuals with CNVs overlapping genes and loci implicated in ASD and/or ID (“all CNV”), pathogenic CNVs, uncertain CNVs, or benign CNVs; and OR in affected and control subjects.
(B) Percentage of individuals with pathogenic deletions or duplications and OR in affected and control subjects.
(C) Fraction of de novo CNVs in each category of affected subjects.