Chunk #47 — Results — Expanded analysis of rare de novo CNVs across multiple ASD samples — An analysis of de novo CNVs in 3,816 probands from genome-wide studies of idiopathic ASD supports association of 6 genomic intervals

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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Recurrent de novo CNVs exceeding the significance threshold in the combined sample were also present at 7q11.23 (4 duplications; 0.003), 22q11.2 region (3 deletions and 2 duplications; 0.002 combined; 0.11 for deletions; 0.88 for duplications), and at the locus coding for the gene NRXN1. For NRXN1 there were 5 de novo events: 1 intronic deletion, 3 exonic deletions, and 1 exonic duplication (0.002 combined, 0.004 for deletions).