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学科主题临床医学
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C
Xiong, Hui1; Higaki, Katsumi2; Wei, Cui-jie1; Bao, Xin-Hua1; Zhang, Yue-Hua1; Fu, Na1; Qin, Jiong1; Adachi, Kaori2; Kumura, Yumiko2; Ninomiya, Haruaki3; Nanba, Eiji2; Wu, Xi-Ru1
关键词Niemann-pick Disease Type c Sea Blue Cells Vertical Supranuclear Gaze Palsy Npc1
刊名GENE
2012-05-01
DOI10.1016/j.gene.2012.01.026
498期:2页:332-335
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]STEROL-SENSING DOMAIN ; NPC1 MUTATIONS ; IDENTIFICATION ; FIBROBLASTS ; PHENOTYPES ; DATABASE ; PROTEIN ; GENE
英文摘要

Niemann-Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated. NP-C is rarely reported in China and so far very few literatures are available for Chinese clinical workers. To better characterize this disease in China and improve genetic counseling, mutational analyses of NPC1 gene were carried out in 6 unrelated Chinese patients.

Methods: Clinical data of the probands from 2007 to 2010 were collected and analyzed. All exons of NPC1 were analyzed by direct sequencing.

Results: The six cases, four males and two females, included three cases of late infantile subtype and three cases of juvenile subtype. Case one and case six had siblings who suffered from the same disease. The onset of clinical symptoms varied from three to ten years old, and they included progressive cognitive and language impairment, and motion retrogradation. All were caught by focal or generalized seizures from one to four years after the onset. Vertical supranuclear gaze palsy, dysarthria, dysphagia, internal rotation and adduction of bilateral hands and splenomegaly occurred gradually during the disease progression. Five patients had laughter-cataplexy. MRI indicated mild brain atrophy. Sea blue cells and Niemann-Pick cells were presented in bone marrow smears. Activity of acid sphingomyelinase was normal or only slightly lower than controls. Supporting and symptomatic treatments could improve some of the clinical signs. We identified 10 different NPC1 mutations were identified in 12/12 alleles, 3 of which are described for the first time. All mutations were missense mutations, which located throughout the gene with five clustering in the cysteine-rich luminal domain. Homozygous mutation of S865L correlated-with a relatively severe juvenile neurological form.

Conclusions: NP-C is a rare autosomal recessive lysosomal storage disease that affects intellectual development of children, causing dementia, vegetative state and eventual death. The awareness of NP-C should be raised in the Chinese population. The typical clinical features of this disease include vertical supranuclear gaze palsy, seizures and cataplexy. Laboratory features include the presence of sea blue cells and Niemann-Pick cells in bone marrow smears. NPC1 mutation can be identified in most of these patients and most of them are missense mutations. (C) 2012 Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000302888700029
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/400002259/57975
专题北京大学第一临床医学院_儿科
北京大学第二临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Tottori Univ, Res Ctr Biosci & Technol, Div Funct Genom, Yonago, Tottori 6838503, Japan
3.Tottori Univ, Fac Med, Sch Hlth Sci, Dept Biomed Regulat, Yonago, Tottori 6838503, Japan
推荐引用方式
GB/T 7714
Xiong, Hui,Higaki, Katsumi,Wei, Cui-jie,et al. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C[J]. GENE,2012,498(2):332-335.
APA Xiong, Hui.,Higaki, Katsumi.,Wei, Cui-jie.,Bao, Xin-Hua.,Zhang, Yue-Hua.,...&Wu, Xi-Ru.(2012).Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.GENE,498(2),332-335.
MLA Xiong, Hui,et al."Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C".GENE 498.2(2012):332-335.
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