Smeets E E J, Pelc K, Dan B
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Mol Syndromol. 2012 Apr;2(3-5):113-127. doi: 10.1159/000337637. Epub 2012 Apr 16.
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.
雷特综合征是女童复杂残疾的最常见病因之一。其特征为早期神经功能退化,严重影响运动、认知和沟通技能,伴有自主神经功能障碍,且常伴有癫痫发作。它是一种与MECP2基因突变相关的单基因X连锁显性神经发育障碍,MECP2编码甲基CpG结合蛋白MeCP2。有几种基于条件性敲除Mecp2基因或截断突变的小鼠模型。我们讨论了临床方面,特别强调行为表型,并回顾了临床管理的当前观点以及改变基因表达的观点。