Article
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
Brain & development - 1 Jun 2012
Psoni Stavroula, Sofocleous Christalena, Traeger-Synodinos Joanne, Kitsiou-Tzeli Sophia, Kanavakis Emmanuel, Fryssira-Kanioura Helen
Abstract excerpt
BACKGROUND: Mutations in the MECP2 gene (methyl-CpG-binding protein-2) are responsible for 60-95% of cases of Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder affecting mostly girls. Classic RTT is characterized by normal early development followed by psychomotor regression and onset of microcephaly, although variant forms are also observed. MECP2 has also been implicated in variable mental...
Topics
- Adolescent
- Adult
- Angelman Syndrome
- Child
- Child, Preschool
- Female
- Fragile X Syndrome
- Gene Expression Regulation, Developmental
- Gene Frequency
- Genetic Association Studies