De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Willsey A. Jeremy; Fernandez Thomas V.; Yu Dongmei; King Robert A.; Dietrich Andrea; Xing Jinchuan; Sanders Stephan J.; Mandell Jeffrey D.; Huang Alden Y.; Richer Petra; Smith Louw; Dong Shan; Samocha Kaitlin E.; Neale Benjamin M.; Coppola Giovanni; Mathews Carol A.; Tischfield Jay A.; Scharf Jeremiah M.; State Matthew W.; Heiman Gary A.

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De Novo Coding Variants Are Strongly Associated with Tourette Disorder

机译：De Novo编码变体与Tourette Dission强烈相关

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Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely genedisrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are over-represented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging vari-ants in approximately 400 genes contribute risk in 12% of clinical cases.

机译：全面测序（WES）和De Novo变体检测已证明复杂神经发育障碍中基因发现的强大方法。从Tourette International Conclaborative Genetics Cohort和Tourette综合征协会国际财团的Tourette International Soluborative Genetics Cohort和186年TRIOS的复制样本完成了325个Tourette Date Treios的Wes，从Tourette综合征协会国际财团（总计511）。我们观察强大而一致的证据表Novo可能的基因异性（LGD）变体（率比[RR] 2.32，P = 0.002）。此外，DE Novo损坏变体（LGD和可能损坏的密码）在证据（RR 1.37，P = 0.003）中过度表示。我们在无关的证据中鉴定具有多种Novo损伤变体的四种可能的风险基因：WWC1（含有1的C2结构域1），CelsR3（钙粘蛋白EGF LAG七键G型受体3），NipBl（捏合B样），和fn1（纤连蛋白1）。总体而言，我们估计大约400个基因的De Novo损伤毒蚂蚁患有12％的临床病例的风险。

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《Neuron》 |2017年第3期|共23页
作者
Willsey A. Jeremy; Fernandez Thomas V.; Yu Dongmei; King Robert A.; Dietrich Andrea; Xing Jinchuan; Sanders Stephan J.; Mandell Jeffrey D.; Huang Alden Y.; Richer Petra; Smith Louw; Dong Shan; Samocha Kaitlin E.; Neale Benjamin M.; Coppola Giovanni; Mathews Carol A.; Tischfield Jay A.; Scharf Jeremiah M.; State Matthew W.; Heiman Gary A.;
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作者单位

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Yale Univ Sch Med Yale Child Study Ctr 333 Cedar St New Haven CT 06520 USA;

Harvard Med Sch Massachusetts Gen Hosp Dept Neurol Ctr Genom Med Boston MA 02114 USA;

Yale Univ Sch Med Yale Child Study Ctr 333 Cedar St New Haven CT 06520 USA;

Univ Groningen Univ Med Ctr Groningen Dept Child &

Adolescent Psychiat NL-9713 GZ Groningen;

Rutgers State Univ Dept Genet Piscataway NJ 08854 USA;

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Univ Calif Los Angeles Dept Neurol Los Angeles CA 90095 USA;

Yale Univ Sch Med Yale Child Study Ctr 333 Cedar St New Haven CT 06520 USA;

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Harvard Med Sch Massachusetts Gen Hosp Dept Neurol Ctr Genom Med Boston MA 02114 USA;

Harvard Med Sch Massachusetts Gen Hosp Dept Neurol Ctr Genom Med Boston MA 02114 USA;

Univ Calif Los Angeles Dept Neurol Los Angeles CA 90095 USA;

Univ Florida Sch Med Dept Psychiat Gainesville FL 32611 USA;

Rutgers State Univ Dept Genet Piscataway NJ 08854 USA;

Harvard Med Sch Massachusetts Gen Hosp Dept Neurol Ctr Genom Med Boston MA 02114 USA;

Univ Calif San Francisco Dept Psychiat UCSF Weill Inst Neurosci San Francisco CA 94143 USA;

Rutgers State Univ Dept Genet Piscataway NJ 08854 USA;

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正文语种 eng
中图分类神经病学;
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1. De Novo Coding Variants Are Strongly Associated with Tourette Disorder [J] . Willsey A. Jeremy, Fernandez Thomas V., Yu Dongmei, Neuron . 2017,第3期

机译：De Novo编码变体与Tourette Dission强烈相关
2. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis [J] . Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Cell Reports . 2018,第12期

机译：De Novo序列和拷贝数变异与抽动秽语紊乱和发病机理中的细胞极性密切相关
3. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis [J] . Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Cell Reports . 2018,第13期

机译：De Novo序列和拷贝数变异与抽动秽语紊乱和发病机理中的细胞极性密切相关
4. Application of multiple protease digestion with SPS de novo approach to the characterization of hemoglobin variants [C] . Jane Y. Yang, Adrian Guthals, Jesse Meyer, ASMS Conference on Mass Spectrometry and Allied Topics . 2014

机译：多种蛋白酶消化用SPS DE Novo方法在血红蛋白变体表征中的应用
5. The experiences of clinical psychology doctoral students who self-identify as having Tourette' s syndrome, Stuttering Disorder, or Stereotypic Movement Disorder. [D] . Samuels, Eric Abraham. 2016

机译：自我识别为图雷特氏综合症，口吃障碍或刻板印象运动障碍的临床心理学博士生的经历。
6. De Novo Coding Variants Are Strongly Associated with Tourette Disorder [O] . A. Jeremy Willsey, Thomas V. Fernandez, Dongmei Yu, -1

机译：De Novo编码变体与Tourette障碍密切相关
7. De Novo Coding Variants Are Strongly Associated with Tourette Disorder [O] . Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA ( host institution ), Barr, Cathy L. ( author ), Batterson, James R. ( author ), 2017

机译：De Novo编码变体与Tourette障碍密切相关

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

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