Chunk #29 — 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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Overall, the data show a strong effect of large rare genic de novo CNVs on affected status, but do not support either IQ or ASD severity as useful predictors for probands carrying large rare de novo risk variants in the SSC (Figure 3C). We did observe a trend toward more gene rich de novo CNVs in females and found females to be less vulnerable to the reduction in IQ associated with rare de novo CNVs.