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Chunk #26 — 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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In contrast, we found that male intellectual functioning was relatively more vulnerable to the effects of rare de novo CNVs. Again using a series of stepwise linear models we evaluated the relationship between intellectual functioning, sex, and the number of genes within rare de novo CNVs. For males, there was a significant relationship between IQ and number of genes (p=0.02), with the model predicting a decrease of 0.42 IQ points for each additional gene. In contrast, for females the estimated effect was ten-fold less and did not approach significance (Figure 3D).