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Abstract
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.
Glossary
- ADHD=
- attention-deficit hyperactivity disorder;
- CEPH=
- Centre d'Etude du Polymorphisme Humain;
- CN=
- copy number;
- CNV=
- copy number variant;
- OCD=
- obsessive-compulsive disorder;
- M=
- minimum number of markers in CNV;
- PCA=
- principal components analysis;
- SNP=
- single nucleotide polymorphism;
- SVS=
- SNP and Variation Suite;
- TS=
- Tourette syndrome.
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- Article
- Abstract
- Glossary
- Tourette syndrome (TS) is a common neurodevelopmental disorder characterized by motor and vocal tics, often associated with obsessive-compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD). Genetic and environmental factors are postulated to play an important role in TS. Support for a genetic component in the etiology of TS comes from twin and family studies.1–4 There has been limited success with respect to identifying specific genes that are affected in TS. Genome-wide linkage studies have been inconsistent in reproducing the results.5 Partly, such limited success could be due to an incorrect genetic model, uncertainty regarding optimal phenotypic definition for linkage studies, genetic heterogeneity, bilineal transmission, or sporadic and de novo cases.
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- DISCUSSION
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