Rett Syndrome

Molecular Syndromology

B. Dan¹  E.E.J. Smeets¹  K. Pelc¹ 

[1] aDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

关键词: MeCP2;    Rett syndrome;   

DOI  :  10.1159/000337637

学科分类：基础医学

来源: S Karger AG

【 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.

【 授权许可】

Unknown