Novel Rett syndrome variant shines light on new screening strategies for therapies
Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic ‘hand-wringing’ movements, seizures, and cognitive disability. This incurable condition results from mutations in the methyl-CpG binding protein 2 (MECP2) gene that impairs the role of the MeCP2 protein in regulating the activity of many genes in brain cells.
A new MECP2 gene variant (G118E) was recently characterized by a research team led by Dr. Huda Zoghbi, a distinguished service professor at Baylor College of Medicine and the founding director of the Jan and Dan Duncan Neurological ...










