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Title: High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
Author: 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
Source: PLOS ONE
Issued Date: 2012
Volume: 7, Issue:4, Pages:-e34739
Keyword: SCAFFOLDING PROTEIN SHANK3 ; COPY NUMBER VARIATION ; MENTAL-RETARDATION ; CONGENITAL-ANOMALIES ; LEARNING-DISABILITY ; GENE-EXPRESSION ; ARRAY CGH ; DELAY
Subject: Science & Technology - Other Topics
Corresponding Author: 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
English Abstract: 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.
Indexed Type: sci
Language: 英语
Content Type: 期刊论文
URI: http://ir.sibs.ac.cn/handle/331001/2485
Appears in Collections:神经所(总)_期刊论文

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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.High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability,PLOS ONE,2012,7(4):-e34739
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