Chunk #32 — 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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We found that probands carrying a 16p11.2 or 7q11.23 de novo CNV were indistinguishable from the larger group with regard to IQ, ASD severity, or categorical autism diagnosis (Table 2). However, we did find a relationship between body weight and 16p11.2 deletions and duplications. When we treated copy number as an ordinal variable (1, 2, and 3 copies), and used the matched controls as the diploid sample, BMI diminished as 16p11.2 copy number increased (estimated β=−3.1kg/m2 for each extra copy, p=0.02).