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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

 Sheng Wang  ;  Jeffrey D. Mandell  ;  Yogesh Kumar  ;  Nawei Sun  ;  Montana T. Morris  ;  Juan Arbelaez  ;  Cara Nasello  ;  Shan Dong  ;  Clif Duhn  ;  Xin Zhao  ;  Zhiyu Yang  ;  Shanmukha S. Padmanabhuni  ;  Dongmei Yu  ;  Robert A. King  ;  Andrea Dietrich  ;  Najah Khalifa  ;  Niklas Dahl  ;  Alden Y. Huang  ;  Benjamin M. Neale  ;  Giovanni Coppola  ;  Carol A. Mathews  ;  Jeremiah M. Scharf  ;  Tourette International Collaborative Genetics Study (TIC Genetics)  ;  Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE)  ;  Tourette Association of America International Consortium for Genetics (TAAICG)  ;  Thomas V. Fernandez  ;  Joseph D. Buxbaum  ;  Silvia De Rubeis  ;  Dorothy E. Grice  ;  Jinchuan Xing  ;  Gary A. Heiman  ;  Jay A. Tischfield  ;  Peristera Paschou  ;  A. Jeremy Willsey  ;  Matthew W. State 
 CELL REPORTS, Vol.24(13) : 3441-3454.e12, 2018 
Journal Title
Issue Date
Adult ; Cadherins/genetics* ; Cell Polarity ; Child ; DNA Copy Number Variations* ; Female ; Humans ; Male ; Pedigree ; Receptors, Cell Surface/genetics* ; Tourette Syndrome/genetics* ; Tourette Syndrome/pathology
TIC Genetics ; Tourette disorder ; cell polarity ; copy number variants ; de novo variants ; gene discovery ; microarray genotyping ; multiplex ; simplex ; whole exome sequencing
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.
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1. College of Medicine (의과대학) > Dept. of Psychiatry (정신과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eun Joo(김은주) ORCID logo https://orcid.org/0000-0003-3061-2051
Song, Dong Ho(송동호) ORCID logo https://orcid.org/0000-0002-9647-3130
Cheon, Keun Ah(천근아) ORCID logo https://orcid.org/0000-0001-7113-9286
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