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Article

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

European journal of medical genetics - 1 Oct 2016

Lambert Sophie, Maystadt Isabelle, Boulanger Sébastien, Vrielynck Pascal, Destrée Anne, Lederer Damien, Moortgat Stéphanie

Abstract excerpt

Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males. However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian...

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Identifiers

PMID: 27465203
DOI: 10.1016/j.ejmg.2016.07.003

Genes

MECP2

Variants

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