An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development.

ABSTRACT: Genetic composition plays critical roles in the pathogenesis of autism spectrum disorder (ASD). Especially, inherited and de novo intronic variants are often seen in patients with ASD. However, the biological significance of intronic variants is difficult to address. Here, among a Chinese ASD cohort, we identified a recurrent inherited intronic variant in the CHD7 gene, which is specifically enriched in East Asian populations. CHD7 has been implicated in numerous developmental disorders including CHARGE syndrome and ASD. To investigate whether the ASD-associated CHD7 intronic variant affects neural development, we established human embryonic stem cells carrying this variant using CRISPR/Cas9 methods and found that the level of CHD7 mRNA significantly decreased compared to control. Upon dif

SUBMITTER: Zhang R 

PROVIDER: S-EPMC8353028 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature