ANALÝZA NEJČASTĚJŠÍCH MUTACÍ U DÍVEKS RETTOVÝM SYNDROMEM

Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutationsin MeCP2 Gene

Background.
Rett syndrome is an X-linked dominant neurodevelopmental disorder affecting 1 from 10,000 to15,000 females worldwide. The responsible gene, encoding methyl-CpG binding protein 2 was recently identified.Methyl-CpG binding protein 2 is thought to act as a global transcriptional repressor. In the methyl-CpG bindingprotein 2 gene are known 5 prevalent mutations that cause Rett syndrome. Four of them are detectable by restrictionanalysis. In this study we present the results of the molecular study of four prevalent mutations in the gene formethyl-CpG binding protein 2 in Czech and Slovak patients with Rett syndrome.Methods and Results. 22 females with Rett syndrome were investigated by methods of molecular biology.Restriction analysis and direct sequencing of PCR products revealed in methyl-CpG binding protein 2 gene 3 differentmutations (T158M, R168X, R270X) in six unrelated patients with Rett syndrome. Mutation R306C, frequent inGreat Britain and Sweeden, was not detected in our group of patients with Rett syndrome.Conclusions. The diagnosis of Rett syndrome and genetic counselling in affected families should go out from theclose cooperation of the pediatric, neurologic, and genetic departments with the specialized laboratories dealingwith the molecular biological diagnosis.

Key words:
Rett syndrome, MeCP2 gene, DNA diagnosis.