Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

ABSTRACT: Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.3x in 181 cortical, cerebellar, and peripheral tissue samples to identify brain somatic single nucleotide variants (SNVs) in 24 ASD subjects and 31 controls. We detected ~2.4 brain somatic SNVs per exome per single brain region, with a variant allele frequency (VAF) as low as 0.3%. The mutational profiles, including the number, signature, and type, were not significantly different between the ASD patients and controls. Intriguingly, when considering genes with low-level brain somatic SNVs and

SUBMITTER: Kim IB 

PROVIDER: S-EPMC11372092 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature