Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/51352

TitleVariant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene
Author(s)Vieira, José Pedro
Lopes, Fátima Daniela Teixeira
Fernandes, Anabela Silva
Sousa, Maria Vânia
Moura, Sofia
Sousa, Susana
Costa, Bruno M.
Barbosa, Mafalda Fernanda Cabral Santos
Ylstra, Bauke
Temudo, Teresa
Lourenço, Teresa
Maciel, P.
KeywordsEpigenetics
Epilepsy
Intellectual disability
Neurodevelopment
Issue date10-Nov-2015
PublisherElsevier
JournalInternational Journal of Developmental Neuroscience
CitationVieira, J. P., Lopes, F., Silva-Fernandes, A., Sousa, M. V., Moura, S., Sousa, S., ... & Lourenco, T. (2015). Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene. International Journal of Developmental Neuroscience, 46, 82-87
Abstract(s)Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated by the inversion. However, and in spite of a balanced pattern of X inactivation, this patient displayed hypomethylation and an overexpression of the MECP2 gene at the mRNA level in the lymphocytes (mean fold change: 2.55 +/- 038) in comparison to a group of control individuals; the expression of the CDKL5 gene was similar to that of controls (mean fold change: 0.98 +/- 0.10). No gains or losses were detected in the breakpoint regions encompassing known or suspected transcription regulatory elements. We propose that the de-regulation of MECP2 expression in this patient may be due to alterations in long-range genomic interactions caused by the inversion and hypothesize that this type of epigenetic de-regulation of the MECP2 may be present in other RTT-like patients.
TypeArticle
URIhttp://hdl.handle.net/1822/51352
DOI10.1016/j.ijdevneu.2015.07.010
ISSN0736-5748
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S0736574815300277
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee


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