Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

doi:10.1016/j.ijdevneu.2015.07.010

Article

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 : the official journal of the International Society for Developmental Neuroscience - 1 Nov 2015

Vieira José Pedro, Lopes Fátima, Silva-Fernandes Anabela, Sousa Maria Vânia, Moura Sofia, Sousa Susana, Costa Bruno M, Barbosa Mafalda, Ylstra Bauke, Temudo Teresa, Lourenço Teresa, Maciel Patrícia

Abstract excerpt

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...

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Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

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