Documentation scienceplus.abes.fr version Bêta

À propos de : Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease        

AttributsValeurs
type
Is Part Of
Subject
Title
  • Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease
has manifestation of work
related by
Abstract
  • BACKGROUND. Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases. METHODS. We have screened theMECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X chromosome inactivation (XCI) in each girl. RESULTS. We found a mutation inMECP2 in only one family. In the four families without mutation in MECP2, we found that (1) all mothers exhibit a totally skewed pattern of XCI; (2) six out of eight affected girls also have a totally skewed pattern of XCI; and (3) it is the paternally inherited X chromosome which is active in the patients with a skewed pattern of XCI. Given that the skewing of XCI is inherited in our families, we genotyped the whole X chromosome using 32 polymorphic markers and we show that a locus potentially responsible for the skewed XCI in these families could be located on the short arm of the X chromosome. CONCLUSION. These data led us to propose a model for familial Rett syndrome transmission in which two traits are inherited, an X linked locus abnormally escaping X chromosome inactivation and the presence of a skewed XCI in carrier women.
article type
publisher identifier
  • 00386
is part of this journal
PubMed ID
  • 11432961



Alternative Linked Data Documents: ODE     Content Formats:       RDF       ODATA       Microdata