Chunk #31 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Genotype-phenotype analyses of probands carrying 16p11.2 and 7q11.23 CNVs

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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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Our primary analysis focused on 4 variables: full-scale IQ, categorical diagnosis, severity of autism, and body mass index (BMI) (Table 2), with the latter motivated by multiple reports that 16p11.2 deletions (Bijlsma et al., 2009; Walters et al., 2010) contribute to obesity and the recent observation that duplications have the opposite impact on weight (Reymond et al., 2010). We then pursued a broader exploratory study of additional phenotypic variables, 10 of which are presented in Table 2 and the remainder in Table S5.