Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome (Abstract/Poster in atti di convegno)

Type
Label
  • Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • F.L. Conforti, R. Mazzei, T. Sprovieri, A. Magariello, A. Patitucci, A.L. Gabriele, C. Ungaro, M. Muglia (2006)
    Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome
    in European Human Genetics Conference 2006, Amsterdam
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • F.L. Conforti, R. Mazzei, T. Sprovieri, A. Magariello, A. Patitucci, A.L. Gabriele, C. Ungaro, M. Muglia (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • The Rett syndrome, a childhood neurodevelopmental disorder almost exclusively affecting females, is caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2) located at Xq28. Previous studies carried out in patients coming from southern Italy divided into classical Rett, variant RTT and patients with Rett-like features, revealed mutations in MECP2 in most of the patients with classical and variant RTT, 73% of all the mutations were common mutations and other 27% were rare mutations (Conforti et al, Am J Med Genet A.,2003). By the additional studies to confirm the diagnosis of RTT, we report here two novel MECP2 mutations (N126Y and S134P) responsible for classical RTT. The missense mutation N126Y involves a well conserved aminoacid residue in MECP2 across species. It is considered to be associated with the clinical phenotype, since it is located at the methyl-binding domain and other pathogenic mutations were detected around the site. The second new mutation S134P is a missense mutation resulting from a nucleotide substitution of T to C; furthermore, it is a de novo mutation involving a conserved residue in the MBD of MECP2 gene. In addition to determine the role of X Chromosome Inactivation (XCI) in phenotypic variability of Rett patients, we also evaluated XCI using the AR methylation assay. Our data indicate that a random and a skewed XCI (90%) occurred in the patients carrying the S134P and the N126Y mutations respectively. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, CNR, Mangone (CS), 87050, Italy (literal)
Titolo
  • Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome (literal)
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