High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

CORC > 上海神经科学研究所 > 中国科学院上海生命科学研究院神经科学研究所 > 神经所(总)

	High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
	Gong, XH ; Jiang, YW ; Zhang, X ; An, Y ; Zhang, J ; Wu, Y ; Wang, JM ; Sun, YF ; Liu, YY ; Gao, XW ; Shen, YP ; Wu, XR ; Qiu, ZL ; Jin, L ; Wu, BL ; Wang, HY
刊名	PLOS ONE
	2012
卷号	7 期号:4 页码:-e34739
关键词	SCAFFOLDING PROTEIN SHANK3 COPY NUMBER VARIATION MENTAL-RETARDATION CONGENITAL-ANOMALIES LEARNING-DISABILITY GENE-EXPRESSION ARRAY CGH DELAY
ISSN号	1932-6203
通讯作者	Gong, XH (reprint author), Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China.,wu_b@fudan.edu.cn ; wanghy@fudan.edu.cn
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.
学科主题	Science & Technology - Other Topics
收录类别	SCI
资助信息	973 Program [2010CB529601, 2009CB522007]; National Natural Science Foundation of China [30900404]; National Science Fund for Distinguished Young Scholars [81025003]; Program for Innovative Research Team in University [IRT1010]; Ministry of Education of China [2008024610431/4CE20110071110026]; Commission for Science and Technology of Shanghai Municipality [10JC1401300, 11XD1400900]
语种	英语
公开日期	2013-06-04
内容类型	期刊论文
源URL	[http://ir.sibs.ac.cn/handle/331001/2485]
专题	上海神经科学研究所_神经所(总)
推荐引用方式 GB/T 7714	Gong, XH,Jiang, YW,Zhang, X,et al. High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability[J]. PLOS ONE,2012,7(4):-e34739.
APA	Gong, XH.,Jiang, YW.,Zhang, X.,An, Y.,Zhang, J.,...&Wang, HY.(2012).High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability.PLOS ONE,7(4),-e34739.
MLA	Gong, XH,et al."High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability".PLOS ONE 7.4(2012):-e34739.