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学科主题: 临床医学
题名:
Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China
作者: 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
发表日期: 2010-07-01
DOI: 10.1177/0883073809350722
卷: 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
所属项目编号: 30571015 ; 7092102
项目资助者: National Science Foundation of China ; Beijing Natural Science Foundation of China
WOS记录号: WOS:000279409100006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52179
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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