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学科主题临床医学
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Wang, Jingmin1; Shang, Jing1,2; Wu, Ye1; Gu, Qiang1; Xiong, Hui1; Ding, Changhong3; Wang, Liwen4; Gao, Zhijie4; Wu, Xiru1; Jiang, Yuwu1
关键词Megalencephalic Leukoencephalopathy With Subcortical Cysts (Mlc) Mlc1 Mutation
刊名JOURNAL OF HUMAN GENETICS
2011-02-01
DOI10.1038/jhg.2010.146
56期:2页:138-142
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 ; Science and Technology Ministry of China ; National Natural Science Foundation of China ; NIH/FIC ; Peking University First Hospital Returned Overseas Doctor Research Foundation ; National Key Research Project &prime ; 11-5&prime ; Science and Technology Ministry of China ; National Natural Science Foundation of China ; NIH/FIC ; Peking University First Hospital Returned Overseas Doctor Research Foundation
研究领域[WOS]Genetics & Heredity
关键词[WOS]DER-KNAAP-DISEASE ; GENETIC-HETEROGENEITY ; PROTEIN
英文摘要

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mutation screening were performed in 13 Chinese patients for the first time. A total of 10 MLC1 mutations were identified in these patients, including five novel missense mutations (c.65G>A, p.R22Q; c.95C>T, p.A32V; c.218G>A, p.G73E; c.823G>A, p.A275T; c.832T>C, p.Y278H), one novel splicing mutation (c.772-1G>C in IVS9-1), one novel small deletion (c.907_930del, p.V303_L310del), one known nonsense mutation (c.593delCTCA, p.Y198X) and two known missense mutations (c.206C>T, p.S69L; c.353C>T, p.T118M). Mutation c.772-1G>C in IVS9-1, accounting for 27.3% (3/11) of the total number of genetically confirmed patients found in this study, is thus a putative hot-spot mutation in the present study group. The existence of a unique MLC1 mutation spectrum in Chinese MLC patients was shown. A systemic study to assess the mutation spectra in different populations should be undertaken. Journal of Human Genetics (2011) 56, 138-142; doi:10.1038/jhg.2010.146; published online 16 December 2010

语种英语
所属项目编号2006BAI05A07 ; 2007CB5119004 ; 30973227 ; D43 TW06176
资助者National Key Research Project &prime ; 11-5&prime ; Science and Technology Ministry of China ; National Natural Science Foundation of China ; NIH/FIC ; Peking University First Hospital Returned Overseas Doctor Research Foundation ; National Key Research Project &prime ; 11-5&prime ; Science and Technology Ministry of China ; National Natural Science Foundation of China ; NIH/FIC ; Peking University First Hospital Returned Overseas Doctor Research Foundation
WOS记录号WOS:000287738900009
Citation statistics
Cited Times:6[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55033
Collection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.Shanxi Med Univ, Hosp 1, Dept Neurol, Taiyuan, Shanxi, Peoples R China
3.Capital Med Univ, Dept Neurol, Beijing Childrens Hosp, Beijing, Peoples R China
4.Peking Univ, Dept Neurol, Childrens Hosp, Capital Childrens Res Inst, Beijing 100034, Peoples R China
Recommended Citation
GB/T 7714
Wang, Jingmin,Shang, Jing,Wu, Ye,et al. Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)[J]. JOURNAL OF HUMAN GENETICS,2011,56(2):138-142.
APA Wang, Jingmin.,Shang, Jing.,Wu, Ye.,Gu, Qiang.,Xiong, Hui.,...&Jiang, Yuwu.(2011).Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).JOURNAL OF HUMAN GENETICS,56(2),138-142.
MLA Wang, Jingmin,et al."Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)".JOURNAL OF HUMAN GENETICS 56.2(2011):138-142.
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