Previous CNV studies have implicated NRXN1 deletions in TS.15,17 We detected one 600kb NRXN1 deletion in a patient with OCD (TS status unknown) (chr2:50185814–50799877, hg18) that was called by iPattern and qPCR-validated, although it did not pass initial QC because <50% of the region was called by PennCNV. We also observed 3 22q11 duplications, all patients with OCD (2 OCD only, 1 OCD+CT), 1 de novo deletion (OCD only), and 1 control duplication (Figure S4, available online). The de novo 22q11 deletion was smaller (~700kb) than the canonical 1.5-3Mb 22q11 deletion associated with velocardiofacial and DiGeorge syndrome (OMIM 192430, 188400), whereas the duplications ranged in size from 700kb-2MB. Although the 3:1 22q11 CNV duplication excess in our sample is not significant, it is notable that three other 22q11 duplications, including 1 de novo event, have previously been reported in TS cases,16,17,38,39 and thus this region warrants further study.
