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学科主题临床医学
High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
Gong, Xiaohong1,2; Jiang, Yu-wu3; Zhang, Xin1,2; An, Yu4,5; Zhang, Jun1,2,6; Wu, Ye3; Wang, Jingmin3; Sun, Yangfei1,2; Liu, Yanyan1,2; Gao, Xuewu1,2; Shen, Yiping4,5; Wu, Xiru3; Qiu, Zilong7; Jin, Li1,2; Wu, Bai-Lin4,5; Wang, Hongyan1,2,4
刊名PLOS ONE
2012-04-11
DOI10.1371/journal.pone.0034739
7期:4
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]SCAFFOLDING PROTEIN SHANK3 ; COPY NUMBER VARIATION ; MENTAL-RETARDATION ; CONGENITAL-ANOMALIES ; LEARNING-DISABILITY ; GENE-EXPRESSION ; ARRAY CGH ; DELAY
英文摘要

Intellectual disability (ID) is a heterogeneous disorder caused by chromosomal abnormalities, monogenic factors and environmental factors. 22q13 deletion syndrome is a genetic disorder characterized by severe ID. Although the frequency of 22q13 deletions in ID is unclear, it is believed to be largely underestimated. To address this issue, we used Affymetrix Human SNP 6.0 array to detect the 22q13 deletions in 234 Chinese unexplained ID patients and 103 controls. After the Quality Control (QC) test of raw data, 22q13 deletions were found in four out of 230 cases (1.7%), while absent in parents of the cases and 101 controls. A review of genome-wide microarray studies in ID was performed and the frequency of 22q13 deletions from the literatures was 0.24%, much lower than our report. The overlapping region shared by all 4 cases encompasses the gene SHANK3. A heterozygous de novo nonsense mutation Y1015X of SHANK3 was identified in one ID patient. Cortical neurons were prepared from embryonic mice and were transfected with a control plasmid, shank3 wildtype (WT) or mutant plasmids. Overexpression of the Y1015 mutant in neurons significantly affected neurite outgrowth compared with shank3 WT. These findings suggest that 22q13 deletions may be a more frequent cause for Chinese ID patients than previously thought, and the SHANK3 gene is involved in the neurite development.

语种英语
WOS记录号WOS:000305336600055
项目编号2010CB529601 ; 2009CB522007 ; 30900404 ; 81025003 ; IRT1010 ; 2008024610431/4CE20110071110026 ; 10JC1401300 ; 11XD1400900
资助机构973 Program ; National Natural Science Foundation of China ; National Science Fund for Distinguished Young Scholars ; Program for Innovative Research Team in University ; Ministry of Education of China ; Commission for Science and Technology of Shanghai Municipality
引用统计
被引频次:22[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67295
专题北京大学第一临床医学院_儿科
北京大学医学部管理机构_医学部
作者单位1.Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China
2.Fudan Univ, Childrens Hosp, Shanghai 200433, Peoples R China
3.Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China
4.Fudan Univ, Sch Life Sci, MOE Key Lab Contemporary Anthropol, Shanghai 200433, Peoples R China
5.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
6.Fudan Univ, Huashan Hosp, Inst & Dept Digest Dis, Shanghai 200433, Peoples R China
7.Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai, Peoples R China
推荐引用方式
GB/T 7714
Gong, Xiaohong,Jiang, Yu-wu,Zhang, Xin,et al. High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability[J]. PLOS ONE,2012,7(4).
APA Gong, Xiaohong.,Jiang, Yu-wu.,Zhang, Xin.,An, Yu.,Zhang, Jun.,...&Wang, Hongyan.(2012).High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability.PLOS ONE,7(4).
MLA Gong, Xiaohong,et al."High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability".PLOS ONE 7.4(2012).
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