Chunk #27 — 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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To evaluate whether low IQ predicted if a proband carried a de novo CNV, we fit a logistic regression model with de novo CNV status for probands as the outcome and full-scale IQ as the predictor. We found the accuracy of prediction was quite low (Nagelkerke pseudo R2=0.014). Overall, while the odds of carrying a de novo CNV varied three-fold for those with the lowest versus the highest IQ, the odds were never large (0.111 at IQ=30, 0.063 at IQ=80, and 0.036 at IQ=130). This relationship did not differ significantly by sex (interaction of IQ and sex, p=0.12).