The MECP2 gene mutation screening in Rett syndrome patients from Croatia

Ann N Y Acad Sci. 2006 Dec;1091:225-32. doi: 10.1196/annals.1378.069.


Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder almost exclusively affecting females and is usually sporadic. Mutations in MECP2 gene have been found in more than 80% of females with typical features of RTT. In this study, we analyzed 15 sporadic cases of RTT. In 7 of 15 patients (47%), we detected pathogenic mutations in the coding parts of MECP2 fourth exon. We found two missense (T158M, R133C), two nonsense (R168X, R270X), two frameshift mutations (P217fs and a double deletion of 28-bp at 1132-1159 and 10-bp at 1167-1176), and one in-frame deletion (L383_E392del10). To our knowledge, the last two mutations have not been reported yet. We also detected one previously described polymorphism (S194S). In conclusion, these results show that the fourth exon should be the first one analyzed because it harbors most of the known mutations. Moreover, mutation-negative cases should be further analyzed for gross rearrangements. This is the first study of its kind in Croatia and it enabled us to give the patients an early confirmation of RTT diagnosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Codon, Nonsense
  • Croatia / epidemiology
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation, Missense*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Rett Syndrome / epidemiology
  • Rett Syndrome / genetics*
  • Sequence Deletion


  • Codon, Nonsense
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2