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学科主题临床医学
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
Jiang, Yuwu1; Zhang, Yuehua1; Zhang, Pingping1; Sang, Tian1; Zhang, Feng2; Ji, Taoyun1; Huang, Qionghui1; Xie, Han1; Du, Renqian2; Cai, Bin3; Zhao, Haijuan1; Wang, Jingmin1; Wu, Ye1; Wu, Husheng4; Xu, Keming5; Liu, Xiaoyan1; Chan, Piu6; Wu, Xiru1
刊名HUMAN GENETICS
2012-07-01
DOI10.1007/s00439-012-1149-3
131期:7页:1217-1224
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者Ministry of Science and Technology of China ; Ministry of Science and Technology of China
研究领域[WOS]Genetics & Heredity
关键词[WOS]IDIOPATHIC GENERALIZED EPILEPSIES ; 15Q13.3 MICRODELETIONS ; SYNAPTIC TRANSMISSION ; MENTAL-RETARDATION ; INCREASE RISK ; IN-VITRO ; DISORDERS ; MAGNESIUM ; SEIZURES ; REARRANGEMENTS
英文摘要

While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are still unknown. Our study investigated whether the CNVs in 15q11.2 are associated with childhood absence epilepsy (CAE) in Chinese patients and whether the selective magnesium transporter NIPA2 gene affected by 15q11.2 microdeletions is a susceptive gene for CAE. We assessed IGE-related CNVs by Affymetrix SNP 5.0 microarrays in 198 patients with CAE and 198 controls from northern China, and verified the identified CNVs by high-density oligonucleotide-based CGH microarrays. The coding region and exon-intron boundaries of NIPA2 were sequenced in all 380 patients with CAE and 400 controls. 15q11.2 microdeletions were detected in 3 of 198 (1.5%) patients and in no controls. Furthermore, we identified point mutations or indel in a heterozygous state of the NIPA2 gene in 3 out of 380 patients, whereas they were absent in 700 controls (P = 0.043). These mutations included two novel missense mutations (c.532A > T, p.I178F; c.731A > G, p.N244S) and one small novel insertion (c.1002_1003insGAT, p.N334_335EinsD). No NIPA2 mutation was found in 400 normal controls. We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of CAE, and 15q11.2 microdeletions are important pathogenic CNVs for CAE with higher frequency in Chinese populations than that previously reported in Caucasians. The haploinsufficiency of NIPA2 may be a mechanism underlying the neurological phenotypes of 15q11.2 microdeletions.

语种英语
所属项目编号2006AA02A408 ; 2006CB500701 ; 2008ZX09312-014 ; 2011CBA00401
资助者Ministry of Science and Technology of China ; Ministry of Science and Technology of China
WOS记录号WOS:000305195400020
引用统计
被引频次:13[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/400002259/67559
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China
3.CapitalBio Corp, Natl Engn Res Ctr Beijing Biochip Technol, Beijing, Peoples R China
4.Beijing Childrens Hosp, Beijing, Peoples R China
5.Capital Inst Pediat, Beijing, Peoples R China
6.Capital Med Univ, Xuanwu Hosp, Dept Neurobiol & Neurol, Beijing 100053, Peoples R China
推荐引用方式
GB/T 7714
Jiang, Yuwu,Zhang, Yuehua,Zhang, Pingping,et al. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy[J]. HUMAN GENETICS,2012,131(7):1217-1224.
APA Jiang, Yuwu.,Zhang, Yuehua.,Zhang, Pingping.,Sang, Tian.,Zhang, Feng.,...&Wu, Xiru.(2012).NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.HUMAN GENETICS,131(7),1217-1224.
MLA Jiang, Yuwu,et al."NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy".HUMAN GENETICS 131.7(2012):1217-1224.
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