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Genetic architecture of Tourette syndrome: our current understanding

Published online by Cambridge University Press:  22 February 2021

Laura Domènech ,
Carolina Cappi  and
Matt Halvorsen Open the ORCID record for Matt Halvorsen [Opens in a new window]
Laura Domènech
Affiliation:
Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA
Carolina Cappi
Affiliation:
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Psychiatry, School of Medicine, University of São Paulo, São Paulo, Brazil
Matt Halvorsen*
Affiliation:
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
*
Author for correspondence: Matt Halvorsen, E-mail: [email protected]
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Abstract

Tourette syndrome (TS) is a severe neuropsychiatric disorder characterized by recurrent, involuntary physical and verbal tics. With a prevalence as high as 1% in children, a deeper understanding of the etiology of the disorder and contributions to risk is critical. Here, we cover the current body of knowledge in scientific literature regarding the genetics of TS. We first review the history and diagnostic criteria for TS cases. We then cover the prevalence, and begin to address the etiology of the disorder. We highlight long-standing evidence for a genetic contribution to TS risk from epidemiology studies focused on twins, families, and population-scale data. Finally, we summarize current large-scale genetic studies of TS along specific classes of genetic variation, including common variation, rare copy number variation, and de novo variation that impact protein-coding sequence. Although these variants do not account for the entirety of TS genetic risk, current evidence is clear that each class of variation is a factor in the overall risk architecture across TS cases.

Keywords

TouretteTSgeneticsreviewgenomicsgenetic variants
Type
Invited Review
Information
Psychological Medicine , Volume 51 , Special Issue 13: Updates on the Genetics of Major Psychiatric Disorders by Early Career Investigators from the Psychiatric Genomics Consortium , October 2021 , pp. 2201 - 2209
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Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press

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Footnotes

*

All co-authors contributed equally to this manuscript.

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