Chunk #25 — 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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We found little evidence for larger or more gene rich de novo CNVs in males versus females. By fitting a series of stepwise linear models, we evaluated whether the number of genes within a de novo CNV tended to differ after accounting for a critical covariate, CNV size. Neither sex (p=0.20) nor the interaction of size and sex (p=0.06) was a significant predictor of gene number. These results should to be viewed with some caution, given the trend toward significance and a relatively small sample size (Figure 3B).