Although not strongly implicated by our study, a number of singleton de novo CNVs are also of note as they are at loci known to be associated with rare genomic disorders. The first is a deletion at 1q21.1 reported in TAR syndrome37 (which does not overlap the known 1q21.1 schizophrenia locus2, 7). We found the TAR region deleted in three more cases and only one control from the extended case–control samples. Again, deletions at this locus have very recently been strongly implicated in developmental delay.32 Another region is a duplication at the locus causing the 7q11.23 microduplication syndrome (which is deleted in Williams–Beuren Syndrome), the prominent features of which include autism and developmental delay.38 Duplications at the WBS region were found in three more cases and one control. Although this excess is not statistically significant (P=0.11, uncorrected), given duplications at this locus have also recently been identified increasing susceptibility for autism25 and developmental delay,32 it seems likely that the observations in the present study point to the involvement of this locus in schizophrenia as well. Further details about each of these loci are provided in Supplementary Section 6.
