Rett syndrome: MECP2 biology, multisystem pathophysiology, and the evolving therapeutic landscape.

Abstract excerpt

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder arising predominantly from de novo loss-of-function mutations in MECP2, affecting approximately 1 in 10,000 live female births. MECP2 is a dosage-sensitive epigenetic regulator acting through its methyl-CpG-binding (MBD) and transcriptional-repression (TRD) domains; isoform-specific expression and X-chromosome-inactivation mosaicism drive the wide...

Topics

• Humans
• Rett Syndrome
• Methyl-CpG-Binding Protein 2
• Animals
• Female
• Mutation