NRXN1 deletion (GT64.1) but not in the parents of the two other cases with this deletion, indicating a de novo mutation in these two trios. The father of case GT64.1 has a diagnosis of OCD, a condition that shows significant co-morbidity and may share common predisposing factors with TS (interestingly, the paternal grand-father is reported to have suffered from OCD; however, his CNV type is unknown). One of the two de novo NRXN1 deletions identified occurred in a proband that had no family history of TS (case GT5.1, Figure S5-2a). The second case with a de novo NRXN1 deletion (GT34.1, Figure S5-2b) had a history of TS/OCD on the paternal side of his family.
