Rett Syndrome
Rett Syndrome is an X-linked, severe neurodevelopmental disorder which almost exclusively affects girls. It is characterized by developmental delays, severe problems with learning, communication and motor functions. In later stages, children with Rett syndrome develop breathing abnormalities, seizures, scoliosis and sleep disturbances. Frequency of Rett syndrome is ~1:8500-1:10000 live births worldwide and usually manifests at 6-8mo of age. The cause of Rett syndrome is a loss-of-function mutations in the X-linked methyl-CpG binding protein (MeCP2), with acts as a transcription regulator and is highly expressed in neurons. In >99% of people with this disease, there is no history of the disorder in their family. Many of these cases result from de novo mutations in the MeCP2 gene. Currently, there are no effective treatments for Rett syndrome and treatments are only aimed toward alleviating symptoms of the disease.