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  Česky / Czech version Čas. Lék. čes., 2007, 146, pp. 647–652.
 
Rett Syndrome: Clinical and Molecular Aspects 
Záhoráková D., Zeman J., Martásek P. 

Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha
 


Summary:

       Rett syndrome is one of the leading causes of mental retardation and developmental regression in girls. It is characterized by a period of normal psychomotor development followed by the loss of acquired motor and communication skills, autistic features and stereotypic hand movements. Rett syndrome is the first pervasive developmental disorder with a known genetic cause. The majority of cases are caused by de novo mutations in an X-linked MECP2 gene. Its product, methyl-CpG-binding protein 2, plays an important role in the regulation of gene expression and chromatin structure. Because the neuropathology of Rett syndrome shares certain features with other neurodevelopmental disorders, a common pathogenic process may underlie these disorders. This makes Rett syndrome a prototype for the genetic, molecular, and neurobiological analyses of neurodevelopmental disorders.

        Key words: Rett syndrome, mental retardation, MECP2 gene, regulation of gene expression.
       

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