Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.

ABSTRACT:

Aim

Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous neurodevelopmental disorder with a strong genetic basis. Conducting the first comprehensive whole-genome sequencing (WGS) analysis of Japanese ASD trios, this study aimed to elucidate the clinical significance of pathogenic variants and enhance the understanding of ASD pathogenesis.

Methods

WGS was performed on 57 Japanese patients with ASD and their parents, investigating variants ranging from single-nucleotide variants to structural variants (SVs), short tandem repeats (STRs), mitochondrial variants, and polygenic risk score (PRS).

Results

Potentially pathogenic variants that could explain observed phenotypes were identified in 18 patients (31.6%) overall and in 10 of 23 patients (4

SUBMITTER: Furukawa S 

PROVIDER: S-EPMC11874045 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature