Rare copy number variants inNRXN1andCNTN6increase risk for Tourette syndrome

Tourette syndrome (TS) is highly heritable, although identification of its underlying genetic cause(s) has remained elusive. We examined a European ancestry sample composed of 2,435 TS cases and 4,100 controls for copy-number variants (CNVs) using SNP microarrays and identified two genome-wide significant loci that confer a substantial increase in risk for TS ( NRXN1 , OR=20.3, 95%CI [2.6-156.2], p=6.0 × 10 −6 ; CNTN6 , OR=10.1, 95% CI [2.3-45.4], p=3.7 × 10 −5 ). Approximately 1% of TS cases carried one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.