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Is Rett syndrome a loss-of-imprinting disorder?

Most cases of Rett syndrome are caused by mutations in MECP2. Transcriptional profiling analyses of the brains of individuals with Rett syndrome have not provided consistent data about genes that are silenced by MECP2. A new study finds loss of imprinting of a maternally imprinted gene, DLX5, both in Mecp2-null mice and in some lymphoblastoid cell lines obtained from individuals with Rett syndrome.

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Pescucci, C., Meloni, I. & Renieri, A. Is Rett syndrome a loss-of-imprinting disorder?. Nat Genet 37, 10–11 (2005). https://doi.org/10.1038/ng0105-10

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  • DOI: https://doi.org/10.1038/ng0105-10

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