Identification of autism-related mutations by whole-exome sequencing and functional validation.

Background: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either or leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2.