Deletions at 16p13.11, which contributed disproportionately to the neurodevelopmental burden, have been implicated in a wide range of disorders, including ID/developmental delay28,29, seizures30,31, and, less strongly, ASD.32 The confirmation of three de novo events among our 6 patients with OCD/TS 16p13.11 deletions, as well as the absence of co-morbid ID, seizures, or ASD in the patients assessed, suggests that these events may be pathogenic in our sample and that the phenotypic spectrum of 16p13.11 deletions should be expanded to include OCD and TS. Importantly, the phenotypic profiles indicate that 16p13.11 deletions are primarily associated with OCD (4 OCD only, 1 OCD+CT, 1 TS only). The presence of a patient with TS but without OCD raises the possibility of a pleiotropic effect of this locus, though this hypothesis remains preliminary, as it is based only on a single patient. It is also likely that additional genetic and environmental factors shape the ultimate phenotypic outcome of these CNV events, including patterns of comorbidity.
