Article
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Molecular autism - 1 Jan 2017
Wen Zhu, Cheng Tian-Lin, Li Gai-Zhi, Sun Shi-Bang, Yu Shun-Ying, Zhang Yi, Du Ya-Song, Qiu Zilong
Abstract excerpt
BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS:...
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