Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.

ABSTRACT:

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

Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD. The parents of patients who were identified with MECP2 mutation were selected for further Sanger sequencing. Each patient accomplished the case report form including general information and clinical scales applied to assess t

SUBMITTER: Wen Z 

PROVIDER: S-EPMC5543534 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature