Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the <i>MECP2</i> gene

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  • José Pedro Vieira
    Neurology Department Hospital Dona Estefânia Centro Hospitalar de Lisboa Central Portugal
  • Fátima Lopes
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal
  • Anabela Silva‐Fernandes
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal
  • Maria Vânia Sousa
    Neurology Department Hospital Dona Estefânia Centro Hospitalar de Lisboa Central Portugal
  • Sofia Moura
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal
  • Susana Sousa
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal
  • Bruno M. Costa
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal
  • Mafalda Barbosa
    Department of Genetics and Genomic Sciences The Mindich Child Health & Development Institute The Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai Mount Sinai NY USA
  • Bauke Ylstra
    Department of Pathology VU University Medical Center Amsterdam The Netherlands
  • Teresa Temudo
    Neuropediatrics Department Centro Hospitalar do Porto Portugal
  • Teresa Lourenço
    Neurology Department Hospital Dona Estefânia Centro Hospitalar de Lisboa Central Portugal
  • Patrícia Maciel
    Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal

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<jats:title>Abstract</jats:title><jats:p>Rett syndrome is a neurodevelopmental disorder caused by mutations in the <jats:italic>MECP2</jats:italic> 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 <jats:italic>MECP2</jats:italic> and <jats:italic>CDKL5</jats:italic> genes are located. FISH analysis revealed that the <jats:italic>MECP2</jats:italic> 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 <jats:italic>MECP2</jats:italic> gene at the mRNA level in the lymphocytes (mean fold change: 2.55 ± 0.38) in comparison to a group of control individuals; the expression of the <jats:italic>CDKL5</jats:italic> 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 <jats:italic>MECP2</jats:italic> 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 <jats:italic>MECP2</jats:italic> may be present in other RTT‐like patients.</jats:p>

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