Tourette syndrome is associated with recurrent exonic copy number variants.
BACKGROUND
Multiple rare copy number variants (CNVs) including genomic deletions and duplications play a prominent role in neurodevelopmental disorders such as mental retardation, autism, and schizophrenia, but have not been systematically studied in Tourette syndrome (TS).


METHODS
We performed a genome-wide screening of single nucleotide polymorphism (SNP) genotyping microarray data to identify recurrent or de novo rare exonic CNVs in a case-control association study of patients with TS.


RESULTS
We identified 5 exon-affecting rare CNVs that are either de novo or recurrent in 10 out of 111 patients with TS but were not found in 73 ethnically matched controls or in the entries of the Database of Genomic Variants (containing 21,178 CNVs at 6,558 loci). Three out of the 5 CNVs have been implicated previously by other studies in schizophrenia, autism, and attention-deficit hyperactivity disorder, suggesting that these CNVs produce a continuum of neuropsychiatric disturbances that manifest in different ways depending on other genetic, environmental, or stochastic factors.


CONCLUSIONS
Rare, recurrent exonic copy number variants are associated in a subset of patients with Tourette syndrome.
Sundaram
Senthil K
SK
Department of Pediatrics and Neurology, Wayne State University, Detroit, MI, USA.
Huq
Ahm M
AM
Wilson
Benjamin J
BJ
Chugani
Harry T
HT
D016022:Case-Control Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D005879:Tourette Syndrome / Q000235:genetics*