Journal of Human Genetics

, Volume 52, Issue 4, pp 342–348

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms


  • Daniela Zahorakova
    • Department of Pediatrics, First School of MedicineCharles University
  • Robert Rosipal
    • Department of Pediatrics, First School of MedicineCharles University
  • Jan Hadac
    • Department of Child NeurologyThomayer University Hospital
  • Alena Zumrova
    • Department of Child NeurologyUniversity Hospital Motol
  • Vladimir Bzduch
    • First Department of PediatricsCommenius University Children’s Hospital
  • Nadezda Misovicova
    • Department of Clinical GeneticsMartin University Hospital
  • Alice Baxova
    • Institute of Biology and Clinical GeneticsGeneral University Hospital
  • Jiri Zeman
    • Department of Pediatrics, First School of MedicineCharles University
    • Department of Pediatrics, First School of MedicineCharles University
Original Article

DOI: 10.1007/s10038-007-0121-x

Cite this article as:
Zahorakova, D., Rosipal, R., Hadac, J. et al. J Hum Genet (2007) 52: 342. doi:10.1007/s10038-007-0121-x


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.


Rett syndrome Mental retardation MECP2 gene Mutation screening MLPA

Supplementary material

10038_2007_121_MOESM1_ESM.doc (38 kb)
MLPA probes in and around the MECP2 gene included in the SALSA MLPA P015C MECP2 Kit (according to the MRC Holland product sheet, (DOC 37.5 KB)

Copyright information

© The Japan Society of Human Genetics and Springer 2007