Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

ABSTRACT: Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10^-3) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 × 10^-5). We also identified two individual, genome-wide significant loci, each conf

SUBMITTER: Huang AY 

PROVIDER: S-EPMC5568251 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature