Alden Y. Huang, University of California - Los Angeles
Dongmei Yu, Massachusetts General Hospital
Lea K. Davis, Vanderbilt University Medical Center
Jae Hoon Sul, University of California - Los Angeles
Fotis Tsetsos, Purdue University
Vasily Ramensky, University of California - Los Angeles
Ivette Zelaya, University of California - Los Angeles
Eliana Marisa Ramos, University of California - Los Angeles
Lisa Osiecki, Massachusetts General Hospital
Jason A. Chen, University of California - Los Angeles
Lauren M. McGrath, University of Denver
Cornelia Illmann, Massachusetts General Hospital
Paul Sandor, University of Toronto
Cathy L. Barr, Krembil Research Institute, University Health Network
Marco Grados, Johns Hopkins University School of Medicine
Harvey S. Singer, Johns Hopkins University School of Medicine
Marcus M. Nöthen, University of Bonn
Johannes Hebebrand, University of Duisburg-Essen
Robert A. King, Yale University School of Medicine
Yves Dion, University of Montréal
Guy Rouleau, McGill University
Cathy L. Budman, Hofstra Northwell School of Medicine
Christel Depienne, Université de Strasbourg
Yulia Worbe, Brain and Spine Institute
Andreas Hartmenn, Brain and Spine Institute
Kirsten R. Müller-Vahl, Hannover Medical School
Manfred Stuhrmann, Hannover Medical School
Harald Aschauer, Medical University Vienna
Mara Stamenkovic, Medical University Vienna
Monika Schloegelhofer, Medical University Vienna
Anastasios Konstantinidis, Medical University Vienna
Gholson J. Lyon, Cold Spring Harbor Laboratory
William M. McMahon, University of Utah - Salt Lake City
Csaba Barta, Semmelweis University
Zsanett Tarnok, Vadaskert Child and Adolescent Psychiatric Hospital
Peter Nagy, Vadaskert Child and Adolescent Psychiatric Hospital
James R. Batterson, Children’s Mercy Hospital, Kansas City
Renata Rizzo, Università di Catania
Danielle C. Cath, University Medical Center Groningen & Drenthe Mental Health CenterFollow
Tomasz Wolanczyk, Medical University of Warsaw
Cheston Berlin, Penn State University College of Medicine
Irene A. Malaty, University of Florida - Gainesville
Michael S. Okun, University of Florida - GainesvilleFollow
Douglas W. Woods, Marquette UniversityFollow
Elliott Rees, Cardiff University
Carlos N. Pato, SUNY Downstate Medical Center
Michele T. Pato, SUNY Downstate Medical Center
James A. Knowles, University of Southern California - Los Angeles
Danielle Posthuma, VU University Amsterdam
David L. Pauls, Massachusetts General Hospital
Nancy J. Cox, Vanderbilt University Medical Center
Benjamin M. Neale, Massachusetts General Hospital
Nelson B. Freimer, University of California - Los Angeles
Peristera Paschou, Purdue University
Carol A. Mathews, University of Florida - GainesvilleFollow
Jeremiah M. Scharf, Massachusetts General HospitalFollow
Giovanni Coppola, University of California - Los Angeles

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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 conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6–156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3–45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.


Accepted version. Neuron, Vol. 94, No. 6 (June 21, 2017): 1101-1111. DOI. © 2017 Elsevier B.V. Used with permission.

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