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Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China
Zhu, Xingwang1; Li, Meirong1; Pan, Hong1; Bao, Xinhua1; Zhang, Jingjing1; Wu, Xiru1
关键词Rett Syndrome Methyl-cpg-binding Protein2 De Novel Mutation Parental Origin X-chromosome Inactivation
刊名JOURNAL OF CHILD NEUROLOGY
2010-07-01
DOI10.1177/0883073809350722
25期:7页:842-848
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]LINKED MENTAL-RETARDATION ; CPG-BINDING PROTEIN-2 ; SYNDROME BRAIN ; GENE ; PHENOTYPE ; PATTERNS ; MALES ; AMPLIFICATION ; EXPRESSION ; LETHALITY
英文摘要

Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding protein2 gene mutations. The results showed that 22 of 24 patients have a paternal origin. Only 2 patients have a maternal origin. Except for 2 cases which were homozygotic at the androgen receptor gene locus, of the remaining 22 cases, 16 cases have a random X-chromosome inactivation pattern; the other 6 cases have a skewed X-chromosome inactivation and they favor expression of the wild allele. The relationship between X-chromosome inactivation and phenotype may need more cases to explore.

语种英语
WOS记录号WOS:000279409100006
项目编号30571015 ; 7092102
资助机构National Science Foundation of China ; Beijing Natural Science Foundation of China
引用统计
被引频次:10[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/400002259/52179
专题北京大学第一临床医学院_中心实验室
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.Gen Hosp Jincheng, Anthracite Min Grp, Dept Pediat, Jincheng, Shanxi Province, Peoples R China
推荐引用方式
GB/T 7714
Zhu, Xingwang,Li, Meirong,Pan, Hong,et al. Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China[J]. JOURNAL OF CHILD NEUROLOGY,2010,25(7):842-848.
APA Zhu, Xingwang,Li, Meirong,Pan, Hong,Bao, Xinhua,Zhang, Jingjing,&Wu, Xiru.(2010).Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China.JOURNAL OF CHILD NEUROLOGY,25(7),842-848.
MLA Zhu, Xingwang,et al."Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China".JOURNAL OF CHILD NEUROLOGY 25.7(2010):842-848.
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