Chunk #45 — Results — Expanded analysis of rare de novo CNVs across multiple ASD samples — An analysis of de novo CNVs in 3,816 probands from genome-wide studies of idiopathic ASD supports association of 6 genomic intervals
The most frequent recurrent de novo CNV identified across all studies was 16p11.2 with 19 identified probands (14 deletions, 5 duplications) showing extremely strong evidence for association with ASD (2 × 10−55 combined; 5 × 10−29 for deletions; 2 × 10−5 for duplications). The proximal long arm of chromosome 15 showed two contiguous intervals: the first corresponds to the region 15q11.2-13.1 or BP2-BP3 (7 duplications; 4 × 10−9) (Figure 7A), long cited as the most common cytogenetic abnormality identified in idiopathic ASD (Cook et al., 1997). We also found evidence of association for the interval mapping to 15q13.2-13.3 or BP4-BP5 (5 duplications and 1 deletion; 1 × 10−4 combined, 2 × 10−5 for duplications) (Figure 7B). Rare deletions and duplications in this region have previously been associated with intellectual disability and ASD, and deletions with schizophrenia and epilepsy (Figure 7). It is important to note, however, that considering only events restricted to 15q13.2-13.3 (i.e. removing 3 overlapping isodicentric chromosome 15 events) we do not find significance (0.53 combined; 0.88 for duplications). This suggests either that the result is an incidental
