Article
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.
Brain & development - 1 Dec 2001
Van den Veyver I B, Zoghbi H Y
Abstract excerpt
Rett syndrome is an X-linked dominant neurodevelopmental disorder primarily affecting girls. About 80% of classic Rett syndrome is caused by mutations in the gene for methyl-CpG-binding protein (MeCP2) in Xq28. MeCP2 links DNA methylation to transcriptional repression, and MECP2 mutations likely cause partial or complete loss of function of the protein, leading to inappropriate transcription of downstream genes...
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