Chunk #28 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Genotype-phenotype analyses of probands carrying any rare de novo CNV

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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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Finally, we investigated the relationship between IQ, sex, and number of genes within rare de novo CNVs to determine if any of the models significantly predicted ASD severity (measured by the ADOS combined severity score (CSS)); of these only full-scale IQ predicted ASD severity (p=0.02).