MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1016/j.celrep.2018.08.082

Медицинская библиотека · Cell reports · 2018

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

Wang Sheng, Mandell Jeffrey D, Kumar Yogesh, Sun Nawei, Morris Montana T, Arbelaez Juan, Nasello Cara, Dong Shan, Duhn Clif, Zhao Xin, Yang Zhiyu, Padmanabhuni Shanmukha S, Yu Dongmei, King Robert A, Dietrich Andrea, Khalifa Najah, Dahl Niklas, Huang Alden Y, Neale Benjamin M, Coppola Giovanni, Mathews Carol A, Scharf Jeremiah M, 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), Fernandez Thomas V, Buxbaum Joseph D, De Rubeis Silvia, Grice Dorothy E, Xing Jinchuan, Heiman Gary A, Tischfield Jay A, Paschou Peristera, Willsey A Jeremy, State Matthew W

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: Wang Sheng, Mandell Jeffrey D, Kumar Yogesh, Sun Nawei, Morris Montana T, Arbelaez Juan, Nasello Cara, Dong Shan, Duhn Clif, Zhao Xin, Yang Zhiyu, Padmanabhuni Shanmukha S, Yu Dongmei, King Robert A, Dietrich Andrea, Khalifa Najah, Dahl Niklas, Huang Alden Y, Neale Benjamin M, Coppola Giovanni, Mathews Carol A, Scharf Jeremiah M, 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), Fernandez Thomas V, Buxbaum Joseph D, De Rubeis Silvia, Grice Dorothy E, Xing Jinchuan, Heiman Gary A, Tischfield Jay A, Paschou Peristera, Willsey A Jeremy, State Matthew W. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.. Cell reports. 2018. DOI: 10.1016/j.celrep.2018.08.082.

Предметные рубрики MeSH

AdultCadherinsCell PolarityChildDNA Copy Number VariationsFemaleHumansMalePedigreeReceptors, Cell SurfaceTourette Syndrome
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.