X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

被引：31
|
作者：
Bao, Xinhua [1 ]
Jiang, Shengling [1 ]
Song, Fuying [1 ]
Pan, Hong [1 ]
Li, Meirong [1 ]
Wu, Xi-Ru [1 ]
机构：
[1] Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China
来源：
JOURNAL OF CHILD NEUROLOGY | 2008年 / 23卷 / 01期
基金：
中国国家自然科学基金;
关键词：
MECP2; mutations; Rett syndrome; X chromosome inactivation;
D O I：
10.1177/0883073807307077
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the correlations between XCI, genotype, and phenotype were analyzed in 52 cases of RTT with MECP2 mutations, 50 WIT mothers, and 48 normal female controls. The results showed XCI and genotype had limitations in explaining all the phenotypic manifestations of RTT. Other genomic factors have to be considered to explain the phenotypic differences.
引用
收藏
页码：22 / 25
页数：4
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