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

L. Giunti, S. Pelagatti, V. Lazzerini, S. Guarducci, E. Lapi, S. Coviello, A. Cecconi, L. Ombroni, E. Andreucci, I. Sani, A. Brusaferri, A. Lasagni, G. Ricotti, B. Giometto, P. Nicolao, P. Gasparini, M. Granatiero, M. L. Giovannucci Uzielli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalBrain and Development
Volume23
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 2001

Keywords

  • Direct sequencing analysis
  • Genotype/phenotype correlation
  • MECP2 gene
  • Rett syndrome MIM 312760

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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