IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
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
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
WOS记录号WOS:000287738900009
项目编号2006BAI05A07 ; 2007CB5119004 ; 30973227 ; D43 TW06176
资助机构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
引用统计
被引频次:6[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/400002259/55033
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.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
推荐引用方式
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.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Wang, Jingmin]的文章
[Shang, Jing]的文章
[Wu, Ye]的文章
百度学术
百度学术中相似的文章
[Wang, Jingmin]的文章
[Shang, Jing]的文章
[Wu, Ye]的文章
必应学术
必应学术中相似的文章
[Wang, Jingmin]的文章
[Shang, Jing]的文章
[Wu, Ye]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。