Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

Brain Dev. 2001 Dec;23 Suppl 1:S242-5. doi: 10.1016/s0387-7604(01)00342-4.


We report a direct DNA sequencing analysis of the MECP2 gene undertaken on a further 64 Italian patients with Rett syndrome by using a LICOR 4200 Automated Sequencer. All of the girls entering the study had a consistent clinical diagnosis for this disorder. All coding regions and the flanking intronic splice site sequences were amplified as three non-overlapping fragments by using both forward and reverse primers. The results were then compared to the MECP2 reference sequences published in GenBank. Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls. Genotype/phenotype correlation studies, in particular in groups of patients with the same mutation, did not offer definitive and interesting data.

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • Codon, Nonsense / genetics
  • DNA / genetics
  • DNA Mutational Analysis*
  • DNA-Binding Proteins / genetics*
  • Female
  • Frameshift Mutation / genetics
  • Genetic Testing*
  • Genotype
  • Humans
  • Italy
  • Methyl-CpG-Binding Protein 2
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Phenotype
  • Repressor Proteins*
  • Rett Syndrome / genetics*
  • Rett Syndrome / physiopathology


  • Chromosomal Proteins, Non-Histone
  • Codon, Nonsense
  • DNA-Binding Proteins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins
  • DNA