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学科主题临床医学
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
Wu, Ye1; Pan, Yanxia1,2; Du, Li1,2; Wang, Jingmin1; Gu, Qiang1; Gao, Zhijie1,2; Li, Jie1,2; Leng, Xuerong1; Qin, Jiong1; Wu, Xiru1; Jiang, Yuwu1
关键词Chinese EIF2B eIF2B mutation vanishing white matter (VWM) disease
刊名JOURNAL OF HUMAN GENETICS
2009-02-01
DOI10.1038/jhg.2008.10
54期:2页:74-77
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Key Research Project&prime ; 11-5&prime ; National Key Research Project &prime ; 973&prime ; Natural Science Foundation of China ; Natural Science Foundation of Beijing ; National Key Research Project&prime ; 11-5&prime ; National Key Research Project &prime ; 973&prime ; Natural Science Foundation of China ; Natural Science Foundation of Beijing
研究领域[WOS]Genetics & Heredity
关键词[WOS]LEUKOENCEPHALOPATHY ; TRANSLATION ; ONSET ; SPECTRUM ; MUTANT ; GENES
英文摘要

Vanishing white matter (VWM) disease, inherited in an autosomal recessive manner, is one of the most prevalent inherited leukoencephalopathies in childhood. It is a hereditary human disease resulting from the direct defects during protein synthesis, with the gene defects in EIF2B1-5 (identified in 2001-2002) encoding the five subunits of eukaryotic translation initiation factor (eIF2B alpha, beta, gamma, delta and epsilon), respectively. Most of the published studies were carried out in the white population. The analysis of clinical features and EIF2B mutation screening were performed in 11 Chinese patients for the first time. Mutations were identified exclusively in EIF2B5 and EIF2B3 in these patients, with six novel mutations, including five missense mutations (EIF2B5: c.185A>T, p.D62V; c.1004G>C, p.C335S; c.1126A>G, p.N376D; EIF2B3: c.140G>A, p.G47E; c.1037T>C, p.I346T) and one deletion leading to amino-acid deletion (EIF2B5: c.1827-1838del, p.S610-D613del). EIF2B3 mutation, accounting for 20% of the total number of mutations found in this study, is more prevalent than expected according to an earlier report (7%). A hot spot mutation in EIF2B3 was identified in this study. A unique EIF2B mutation spectrum in Chinese VWM patients was shown. A systemic study to assess mutation spectrum in different populations needs to be carried out.

语种英语
所属项目编号2006BAI05A07 ; 2007CB5119004 ; 30772355 ; 30872793 ; 7082093 ; 7081004
资助者National Key Research Project&prime ; 11-5&prime ; National Key Research Project &prime ; 973&prime ; Natural Science Foundation of China ; Natural Science Foundation of Beijing ; National Key Research Project&prime ; 11-5&prime ; National Key Research Project &prime ; 973&prime ; Natural Science Foundation of China ; Natural Science Foundation of Beijing
WOS记录号WOS:000265356000002
引用统计
被引频次:12[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/400002259/67319
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.Shan Xi Med Univ, Taiyuan, Peoples R China
推荐引用方式
GB/T 7714
Wu, Ye,Pan, Yanxia,Du, Li,et al. Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease[J]. JOURNAL OF HUMAN GENETICS,2009,54(2):74-77.
APA Wu, Ye.,Pan, Yanxia.,Du, Li.,Wang, Jingmin.,Gu, Qiang.,...&Jiang, Yuwu.(2009).Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.JOURNAL OF HUMAN GENETICS,54(2),74-77.
MLA Wu, Ye,et al."Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease".JOURNAL OF HUMAN GENETICS 54.2(2009):74-77.
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