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学科主题临床医学
Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease
Xie, Han1; Feng, Hongchun1,2; Ji, Jinhua1,3; Wu, Ye1; Kou, Liping1,3; Li, Dongxiao1; Ji, Haoran1; Wu, Xiru1; Niu, Zhengping3; Wang, Jingmin1; Jiang, Yuwu1
关键词PMD PLP1 Missense mutation Subcellular localization
刊名BRAIN & DEVELOPMENT
2015-09-01
DOI10.1016/j.braindev.2014.11.007
37期:8页:797-802
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
资助者"973" Project of the Science and Technology Ministry of China ; National Natural Science Foundation of China ; National Key Research Project "12-5" ; Beijing Natural Science Foundation ; "973" Project of the Science and Technology Ministry of China ; National Natural Science Foundation of China ; National Key Research Project "12-5" ; Beijing Natural Science Foundation
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]CENTRAL-NERVOUS-SYSTEM ; SPASTIC PARAPLEGIA TYPE-2 ; PROTEOLIPID PROTEIN GENE ; CNS MYELIN ; ENDOPLASMIC-RETICULUM ; GOLGI-APPARATUS ; DISORDERS ; OLIGODENDROCYTE ; PATHOGENESIS ; METABOLISM
英文摘要

Purpose: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder characterized by nystagmus, ataxia, impaired motor development, and progressive spasticity. Identification of proteolipid protein 1 (PLP1) mutations in Chinese patients with Pelizaeus-Merzbacher disease (PMD) and confirmation of the biological impacts of the identified mutations are the aims of this study.

Methods: An analysis of clinical materials and a follow-up study were conducted for the patients with PMD. Sequencing and immunofluorescence were applied for molecular analysis of the causative gene PLP1.

Results: We identified PLP1 mutations in seven male patients with PMD. Three novel missense mutations (c.353C>G, p.T118R; c.623G>T, p.G208V; c.709T>G, p.F237V) and three reported missense mutations (c.467C>T, p.T156I; c.517C>T, p.P173S; c.646C>T, p.P2165) of PLP1 were identified from seven Chinese PMD patients. The three mutations (F237V in patient 2, P216S in patient 5 and T156I in patient 6) were de novo. Mutant proteins were trapped in the lumen of endoplasmic reticulum.

Conclusion: We have identified six pathogenic mutations, enriching the specific spectrum of missense mutations in the patients with PMD. The six PLP1 mutations are probably pathogenic. By reviewing the known PLP1 mutations, we have preliminarily revealed the position of missense mutation may be associated with the severity of PMD. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种英语
所属项目编号2012CB944602 ; 81271257 ; 2012BAI09B04 ; 13G20083
资助者"973" Project of the Science and Technology Ministry of China ; National Natural Science Foundation of China ; National Key Research Project "12-5" ; Beijing Natural Science Foundation ; "973" Project of the Science and Technology Ministry of China ; National Natural Science Foundation of China ; National Key Research Project "12-5" ; Beijing Natural Science Foundation
WOS记录号WOS:000360871800009
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67743
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Xian North Hosp, Dept Neurol, Xian 710043, Shaanxi, Peoples R China
3.Shanxi Med Univ, Dept Neurol, Hosp 1, Taiyuan 030001, Shanxi, Peoples R China
推荐引用方式
GB/T 7714
Xie, Han,Feng, Hongchun,Ji, Jinhua,et al. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease[J]. BRAIN & DEVELOPMENT,2015,37(8):797-802.
APA Xie, Han.,Feng, Hongchun.,Ji, Jinhua.,Wu, Ye.,Kou, Liping.,...&Jiang, Yuwu.(2015).Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.BRAIN & DEVELOPMENT,37(8),797-802.
MLA Xie, Han,et al."Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease".BRAIN & DEVELOPMENT 37.8(2015):797-802.
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