Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.

ABSTRACT:

Background

Variants disruptive to CHD8 (which codes for the protein CHD8 [chromodomain-helicase-DNA-binding protein 8]) are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work has indicated that CHD8 plays a role in the regulation of other ASD-risk genes. However, it is unclear whether a possible shared genetic ontology extends to the phenotype.

Methods

This study (N = 143; 42.7% female participants) investigated clinical and behavioral features of individuals ascertained for the presence of a known disruptive ASD-risk mutation that is 1) CHD8 (CHD8 group) (n = 15), 2) a gene targeted by CHD8 (target group) (n = 22), or 3) a gene without confirmed evidence of being targeted by CHD8 (other gene group) (n = 106).

Resul

SUBMITTER: Beighley JS 

PROVIDER: S-EPMC6925323 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature