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De Novo Sequence an...
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
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- Wang, Sheng (author)
- China Agr Univ, Coll Biol Sci, Beijing, Peoples R China;Natl Inst Biol Sci, Beijing, Peoples R China;Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Mandell, Jeffrey D. (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Kumar, Yogesh (author)
- Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA
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- Sun, Nawei (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Morris, Montana T. (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Arbelaez, Juan (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Nasello, Cara (author)
- Rutgers State Univ, Dept Genet, Piscataway, NJ USA;Rutgers State Univ, Human Genet Inst New Jersey, Piscataway, NJ USA
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- Dong, Shan (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA
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- Duhn, Clif (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA
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- Zhao, Xin (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA;Shanghai Jiatong Univ, Sch Med, Xinhua Hosp, Dept Tradit Chinese Med, Shanghai, Peoples R China
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- Yang, Zhiyu (author)
- Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA
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- Padmanabhuni, Shanmukha S. (author)
- Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA
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- Yu, Dongmei (author)
- Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Ctr Genom Med, Boston, MA USA;Harvard Med Sch, Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA USA
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- King, Robert A. (author)
- Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA;Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA
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- Dietrich, Andrea (author)
- Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, Groningen, Netherlands
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- Khalifa, Najah (author)
- Uppsala universitet,Barn- och ungdomspsykiatri,Centrum för klinisk forskning, Gävleborg
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- Dahl, Niklas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Huang, Alden Y. (author)
- Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA;Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA
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- Neale, Benjamin M. (author)
- Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Ctr Genom Med, Boston, MA USA;Harvard Med Sch, Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA USA
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- Coppola, Giovanni (author)
- Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA;Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA
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- Mathews, Carol A. (author)
- Univ Florida, Dept Psychiat, Genet Inst, Gainesville, FL 32611 USA
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- Scharf, Jeremiah M. (author)
- Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Ctr Genom Med, Boston, MA USA;Harvard Med Sch, Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA USA
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- Fernandez, Thomas V. (author)
- Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA;Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA
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- Buxbaum, Joseph D. (author)
- Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA
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- De Rubeis, Silvia (author)
- Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA
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- Grice, Dorothy E. (author)
- Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA
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- Xing, Jinchuan (author)
- Rutgers State Univ, Dept Genet, Piscataway, NJ USA;Rutgers State Univ, Human Genet Inst New Jersey, Piscataway, NJ USA
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- Heiman, Gary A. (author)
- Rutgers State Univ, Dept Genet, Piscataway, NJ USA;Rutgers State Univ, Human Genet Inst New Jersey, Piscataway, NJ USA
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- Tischfield, Jay A. (author)
- Rutgers State Univ, Dept Genet, Piscataway, NJ USA;Rutgers State Univ, Human Genet Inst New Jersey, Piscataway, NJ USA
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- Paschou, Peristera (author)
- Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA
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- Willsey, A. Jeremy (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, UCSF Weill Inst Neurosci, Inst Neurodegenerat Dis, San Francisco, CA 94143 USA;Univ Calif San Francisco, QBI, San Francisco, CA 94143 USA
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- State, Matthew W. (author)
- Univ Calif San Francisco, Dept Psychiat, UCSF Weill Inst Neurosci, San Francisco, CA 94143 USA;Univ Calif San Francisco, QBI, San Francisco, CA 94143 USA
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(creator_code:org_t)
- CELL PRESS, 2018
- 2018
- English.
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In: Cell Reports. - : CELL PRESS. - 2211-1247. ; 24:13, s. 3441-
- Related links:
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http://www.cell.com/...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wang, Sheng
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Mandell, Jeffrey ...
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Kumar, Yogesh
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Sun, Nawei
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Morris, Montana ...
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Arbelaez, Juan
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show more...
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Nasello, Cara
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Dong, Shan
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Duhn, Clif
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Zhao, Xin
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Yang, Zhiyu
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Padmanabhuni, Sh ...
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Yu, Dongmei
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King, Robert A.
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Dietrich, Andrea
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Khalifa, Najah
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Dahl, Niklas
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Huang, Alden Y.
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Neale, Benjamin ...
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Coppola, Giovann ...
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Mathews, Carol A ...
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Scharf, Jeremiah ...
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Fernandez, Thoma ...
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Buxbaum, Joseph ...
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De Rubeis, Silvi ...
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Grice, Dorothy E ...
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Xing, Jinchuan
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Heiman, Gary A.
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Tischfield, Jay ...
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Paschou, Periste ...
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Willsey, A. Jere ...
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State, Matthew W ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Cell Reports
- By the university
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Uppsala University