Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility
文献类型：期刊论文
| 作者 | Bi, Cheng2,3 ; Wu, Jinyu1; Jiang, Tao4; Liu, Qi1; Cai, Wanshi1; Yu, Ping1; Cai, Tao1,6; Zhao, Mei2; Jiang, Yong-hui5; Sun, Zhong Sheng1,6
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| 刊名 | HUMAN MUTATION
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| 出版日期 | 2012-12-01 |
| 卷号 | 33期号:12页码:1635-1638 |
| 关键词 | autism spectrum disorder de novo mutation Ankyrin 3 susceptibility whole-exome sequencing |
| ISSN号 | 1059-7794 |
| 产权排序 | 1 |
| 通讯作者 | Sun, ZS (reprint author), Beichen W Rd, Beijing 100101, Peoples R China. |
| 英文摘要 | Autism spectrum disorders (ASDs) are common neurodevelopmental disorders with a strong genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional approaches for gene discovery are challenging. Next-generation sequencing technologies offer an opportunity to accelerate the identification of the genetic causes of ASDs. Here, we report the results of whole-exome sequence in a cohort of 20 ASD patients. By extensive bioinformatic analysis, we identified novel mutations in seven genes that are implicated in synaptic function and neurodevelopment. After sequencing an additional 47 ASD samples, we identified three different missense mutations in ANK3 in four unrelated ASD patients, one of which, c.4705T>G (p.S1569A), is a de novo mutation. Given the fact that ANK3 has been shown to strongly associate with schizophrenia and bipolar disorder, our findings support an association between ANK3 mutations and ASD susceptibility and imply a shared molecular pathophysiology between ASDs and other neuropsychiatric disorders. Hum Mutat 33:16351638, 2012. (c) 2012 Wiley Periodicals, Inc. |
| 学科主题 | Abnormal psychology |
| 收录类别 | SCI |
| 项目简介 | Contract grant sponsors: Major State Basic Research Development Program of China (2012CB517902 and 2012CB517904); International S&T Cooperation Program of China (2011DFA30670); Natural Science Foundation of Zhejiang Province (Z2110521); Autism Speaks (to YHJ).We appreciate Yooji Lee and Xinyu Cao for technical support. We also thank Jennifer Goldstein for critical reading of the manuscript. We gratefully acknowledge the resources provided by the Autism Genetic Resource Exchange (AGRE) Consortium* and the participating AGRE families. The Autism Genetic Resource Exchange is a program of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to Clara M. Lajonchere (PI). |
| 原文出处 | http://onlinelibrary.wiley.com/doi/10.1002/humu.22174/epdf |
| 语种 | 英语 |
| WOS记录号 | WOS:000310975900004 |
| 源URL | [http://ir.psych.ac.cn/handle/311026/12865]  |
| 专题 | 心理研究所_健康与遗传心理学研究室 |
| 作者单位 | 1.Wenzhou Med Coll, Inst Genom Med, Wenzhou, Peoples R China 2.Chinese Acad Sci, Inst Psychol, Beijing 100101, Peoples R China 3.Chinese Acad Sci, Grad Univ, Beijing, Peoples R China 4.Beijing Genom Inst Shenzhen, Shenzhen, Peoples R China 5.Duke Univ, Sch Med, Dept Pediat & Neurobiol, Durham, NC USA 6.Chinese Acad Sci, Beijing Inst Life Sci, Beijing, Peoples R China |
| 推荐引用方式 GB/T 7714 | Bi, Cheng,Wu, Jinyu,Jiang, Tao,et al. Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility[J]. HUMAN MUTATION,2012,33(12):1635-1638. |
| APA | Bi, Cheng.,Wu, Jinyu.,Jiang, Tao.,Liu, Qi.,Cai, Wanshi.,...&Sun, Zhong Sheng.(2012).Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility.HUMAN MUTATION,33(12),1635-1638. |
| MLA | Bi, Cheng,et al."Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility".HUMAN MUTATION 33.12(2012):1635-1638. |
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来源：心理研究所
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