Abstract
GENERAL COMMENTARY article Front. Cell. Neurosci., 09 May 2013Sec. Cellular Neurophysiology Volume 7 - 2013 | https://doi.org/10.3389/fncel.2013.00064
Highlights
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder associated with intellectual disabilities, which almost exclusively affects females during early childhood with an incidence of 1:10,000– 15,000 worldwide (Neul and Zoghbi, 2004)
RTT is primarily caused by lossof-function mutations in methyl-CpGbinding protein 2 (MECP2) (Amir et al, 1999), the gene encoding MeCP2, a transcriptional repressor that binds to methylated CpG sites in promoter regions of DNA (Lewis et al, 1992; Nan et al, 1997)
Characterizing these mice, they discovered that G273X mice exhibit a significantly delayed disease progression with a longer lifespan compared to R270X mice, which led to the hypothesis that the region between R270 and G273 is important for MeCP2 function
Summary
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder associated with intellectual disabilities, which almost exclusively affects females during early childhood with an incidence of 1:10,000– 15,000 worldwide (Neul and Zoghbi, 2004). An AT-Hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders by Baker, S.
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