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Molecular Pathology of Rett Syndrome
 Záhoráková, Daniela
Molecular pathology of Rett syndrome Abstract Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder affecting almost exclusively females. It is characterized especially by psychomotor regression, loss of acquired speech and purposeful hand skills, acquired microcephaly, repetitive stereotypic hand movements, and epileptic seizures. Most of RTT cases are caused by de novo mutations in the MECP2 gene encoding a methyl-CpG-binding protein 2 (MeCP2). The MeCP2 protein plays an important role in regulation of gene expression, chromatin remodeling, and is also involved in RNA splicing. More severe atypical RTT variants (early-onset seizure and congenital variant) may also be caused by mutations in other genes, such as CDKL5 or FOXG1. The Laboratory for study of mitochondrial disorders at Department of pediatrics and adolescent medicine is the only center of DNA diagnostics of RTT in Czech Republic. Therefore, the thesis was focused especially on improving the molecular diagnostics according to the recent research progress. We established the analysis of large deletions and duplications by multiplex ligation-dependent probe amplification (MLPA). Combining the sequencing and MLPA analysis of the MECP2 gene we confirmed the causative mutations in 80 patients. 11 mutations were novel. Mutation analysis...
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