Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in 
females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 
2 gene (MECP2). Here we report mutation analysis of the MECP2 gene in 87 
patients with RTT from the Czech and Slovak Republics, and Ukraine. The 
patients, all girls, with classical RTT were investigated for mutations using 
bi-directional DNA sequencing and conformation sensitive gel electrophoresis 
analysis of the coding sequence and exon/intron boundaries of the MECP2 gene. 
Restriction fragment length polymorphism analysis was performed to confirm the 
mutations that cause the creation or abolition of the restriction site. 
Mutation-negative cases were subsequently examined by multiple 
ligation-dependent probe amplification (MLPA) to identify large deletions. 
Mutation screening revealed 31 different mutations in 68 patients and 12 
non-pathogenic polymorphisms. Six mutations have not been previously published: 
two point mutations (323T>A, 904C>T), three deletions (189_190delGA, 
816_832del17, 1069delAGC) and one deletion/inversion 
(1063_1236del174;1189_1231inv43). MLPA analysis revealed large deletions in two 
patients. The detection rate was 78.16%. Our results confirm the high frequency 
of MECP2 mutations in females with RTT and provide data concerning the mutation 
heterogeneity in the Slavic population.