PSYCH OpenIR  > 健康与遗传心理学研究室
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility
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; Sun, ZS (reprint author), Beichen W Rd, Beijing 100101, Peoples R China.
2012-12-01
Source PublicationHUMAN MUTATION
ISSN1059-7794
SubtypeArticle
Volume33Issue:12Pages:1635-1638
Contribution Rank1
AbstractAutism 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.
Keywordautism spectrum disorder de novo mutation Ankyrin 3 susceptibility whole-exome sequencing
Subject AreaAbnormal Psychology
URL查看原文
Indexed BySCI
Language英语
Funding OrganizationMajor State Basic Research Development Program of China [2012CB517902, 2012CB517904] ; International S&T Cooperation Program of China [2011DFA30670] ; Natural Science Foundation of Zhejiang Province [Z2110521] ; Autism Speaks ; National Institute of Mental Health [1U24MH081810]
Project Intro.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).
WOS IDWOS:000310975900004
Citation statistics
Cited Times:51[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Identifierhttp://ir.psych.ac.cn/handle/311026/12865
Collection健康与遗传心理学研究室
Corresponding AuthorSun, ZS (reprint author), Beichen W Rd, Beijing 100101, Peoples R China.
Affiliation1.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
Recommended Citation
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, ZS .(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.
Files in This Item:
File Name/Size DocType Version Access License
WOS_000310975900004.(236KB)期刊论文出版稿限制开放CC BY-NC-SAView Application Full Text
Related Services
Recommend this item
Bookmark
Usage statistics
Export to Endnote
Google Scholar
Similar articles in Google Scholar
[Bi, Cheng]'s Articles
[Wu, Jinyu]'s Articles
[Jiang, Tao]'s Articles
Baidu academic
Similar articles in Baidu academic
[Bi, Cheng]'s Articles
[Wu, Jinyu]'s Articles
[Jiang, Tao]'s Articles
Bing Scholar
Similar articles in Bing Scholar
[Bi, Cheng]'s Articles
[Wu, Jinyu]'s Articles
[Jiang, Tao]'s Articles
Terms of Use
No data!
Social Bookmark/Share
File name: WOS_000310975900004.pdf
Format: Adobe PDF
All comments (0)
No comment.
 

Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.