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学科主题: 临床医学
题名:
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
作者: 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
发表日期: 2009-02-01
DOI: 10.1038/jhg.2008.10
卷: 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
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
项目资助者: 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
WOS记录号: WOS:000265356000002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67319
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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