NIH R01 · 2025
ABSTRACT Rett syndrome (RTT) is an acquired progressively debilitating neurodevelopmental disorder caused by de novo mutations in the X-linked MECP2 gene that is almost exclusively observed in heterozygous females while hemizygous mutant males rarely survive. RTT is characterized by reduced brain growth, loss of mobility, language skills, cognitive and behavioral problems, and seizures. The MECP2 gene encodes a global transcriptional regulator that is also a reader of epigenetic signals, chromatin modifier, processor of mRNA that controls the expression of thousands of genes. Although MECP2 is expressed in all cells, the primary effects of RTT are in the central nervous system (CNS). Recent…
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