Rett Syndrome

被引：67
作者：
Smeets, E. E. J. [1 ]
Pelc, K. [2 ]
Dan, B. [2 ]
机构：
[1] Maastricht Univ Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
[2] Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola, Dept Neurol, Brussels, Belgium
来源：
MOLECULAR SYNDROMOLOGY | 2011年 / 2卷 / 3-5期
关键词：
MeCP2; Rett syndrome;
D O I：
10.1159/000337637
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. Copyright (C) 2012 S. Karger AG, Basel
引用
收藏
页码：113 / 127
页数：15
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