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Review
. 2000 Jun;10(3):275-9.
doi: 10.1016/s0959-437x(00)00083-6.

Methyl-CpG-binding protein 2 mutations in Rett syndrome

I B Van den Veyver  1 , H Y Zoghbi
Affiliations
Review

Methyl-CpG-binding protein 2 mutations in Rett syndrome

I B Van den Veyver et al. Curr Opin Genet Dev. 2000 Jun.

Abstract

The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.

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