De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to develop an analyzing pipeline for de novo mutations and possible pathways related to ID phenotype in ASD. Whole-exome sequencing (WES) was performed to screen de novo mutations and candidate genes in 79 ASD children together with their parents (trios). The de novo altering genes and relative pathways which were associated with ID phenotype were analyzed. The connection nodes (genes) of above pathways were selected, and the diagnostic value of these selected genes for ID phenotype in the study population was also evaluated.

Results

We identified 89 de novo mutan

SUBMITTER: Chen WX 

PROVIDER: S-EPMC9623983 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature