Chunk #17 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Strong association of rare, recurrent, de novo 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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The 6 regions found in probands included 7 deletions and 4 duplications at chromosome 16p11.2, 4 duplications at 7q11.23 (the Williams-Beuren syndrome region), and 2 CNVs each at 1q21.1 (2 duplications), 15q13.2-q13.3 (1 deletion, 1 duplication), 16p13.2 (2 duplications), and disrupting the gene Cadherin 13 (CDH13) at 16q23.3 (5Mb deletion and an overlapping 34kb exonic deletion).