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Xiol, Clara; Vidal, Silvia; Pascual-Alonso, Ainhoa; Blasco, Laura; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; O’Callaghan, Mar; Pineda, Mercè; Armstrong, Judith; Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xènia; Alsius, Mercè; Amorós, Maria Inmaculada; Antiñolo, Guillermo; Aquino, Lourdes; Arellano, Carmen; Arriola, Gema; Arteaga, Rosa; Baena, Neus; Barcos, Montserrat; Belzunces, Nuria; Boronat, Susana; [...]

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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  • Medientyp: E-Artikel
  • Titel: X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
  • Beteiligte: Xiol, Clara; Vidal, Silvia; Pascual-Alonso, Ainhoa; Blasco, Laura; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; O’Callaghan, Mar; Pineda, Mercè; Armstrong, Judith; Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xènia; Alsius, Mercè; Amorós, Maria Inmaculada; Antiñolo, Guillermo; Aquino, Lourdes; Arellano, Carmen; Arriola, Gema; Arteaga, Rosa; Baena, Neus; Barcos, Montserrat; Belzunces, Nuria; Boronat, Susana; [...]
  • Erschienen: Springer Science and Business Media LLC, 2019
  • Erschienen in: Scientific Reports
  • Sprache: Englisch
  • DOI: 10.1038/s41598-019-48385-w
  • ISSN: 2045-2322
  • Schlagwörter: Multidisciplinary
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the <jats:italic>MECP2</jats:italic> gene. Since the <jats:italic>MECP2</jats:italic> gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent <jats:italic>MECP2</jats:italic> mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed <jats:italic>MECP2</jats:italic> transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.</jats:p>
  • Zugangsstatus: Freier Zugang