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Chunk #32 — Results — Copy Number Variation — Very large copy number variants

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A genome-wide investigation of SNPs and CNVs in schizophrenia.
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Two of the 8 very large deletions are newly reported here as possible contributors to schizophrenia (Figure 1). One, also in the Aberdeen cohort, spanned a 2.69 Mb region on 16p13.11-p12.4. This region includes the gene NDE1, which binds to DISC1 in brain developmental processes [24],[36]. DISC1 is a gene that is disrupted in patients with schizophrenia and other severe neuropsychiatric disorders in one Scottish family [37]. Interestingly, in this region we also saw a 1.2 Mb deletion in a Munich sample, and a 1.5 Mb deletion in an African American patient (chr16:14,771,033–16,225,138). All three deletions included the region chr16:15387380–16198600 (and the genes MPV17L, c16orf45, KIAA0430, NDE1, MYH11, KIAA0866, c16orf63, ABCC1 and MRP6/AbCC6) indicating that a large deletion of this region may be a recurrent schizophrenia risk factor. Further investigation of this region in 755 US epilepsy patients genotyped on the Illumina Human610-Quad BeadChip revealed a further 6 deletions >500 kb (Heinzen et al., in preparation), suggesting that it is a risk factor for other neuropsychiatric conditions as well as schizophrenia. Collectively, these data strongly suggest that deletions in this