Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function

Abstract

Rett syndrome (RTT [MIM #312750]) was discovered when two girls who exhibited the same unusual behaviors happened to be seated next to each other in the waiting room of Andreas Rett, a Viennese pediatrician. It took >30 years after this discovery to determine the genetic basis of RTT, largely because the disease is primarily sporadic in nature and because familial cases are scarce. The discovery that mutations in methyl-CpG–binding protein 2 (MECP2) cause RTT and other neurodevelopmental disorders has called attention to the importance of epigenetic modifications in neuronal function.