MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: Hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region

Marcella Vacca, Francesco Filippini, Alberta Budillon, Valeria Rossi, Floriana Della Ragione, Maria Luigia De Bonis, Grazia Mercadante, Elisa Manzati, Francesca Gualandi, Stefania Bigoni, Cecilia Trabanelli, Giorgio Pini, Elisa Calzolari, Alessandra Ferlini, Ilaria Meloni, Giuseppe Hayek, Michele Zappella, Alessandra Renieri, Michele D'Urso, Maurizio D'EspositoFiona Macdonald, Alison Kerr, Seema Dhanjal, Maj Hulten

Research output: Contribution to journalArticlepeer-review

Abstract

Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors.

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

Keywords

  • Bioinformatics
  • Fork head
  • MECP2
  • Mutation analysis
  • Recurrent mutations
  • Rett syndrome

ASJC Scopus subject areas

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

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