Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892602 | PMC |
| http://dx.doi.org/10.1016/j.conb.2019.08.001 | DOI Listing |
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