Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes.

ABSTRACT: Research demonstrates the important role of genetic factors in attention-deficit/hyperactivity disorder (ADHD). DNA sequencing of families provides a powerful approach for identifying de novo (spontaneous) variants, leading to the discovery of hundreds of clinically informative risk genes for other childhood neurodevelopmental disorders. This approach has yet to be extensively leveraged in ADHD. We conduct whole-exome DNA sequencing in 152 families, comprising a child with ADHD and both biological parents, and demonstrate a significant enrichment of rare and ultra-rare de novo gene-damaging mutations in ADHD cases compared to unaffected controls. Combining these results with a large independent case-control DNA sequencing cohort (3206 ADHD cases and 5002 controls), we identify lysine demet

SUBMITTER: Olfson E 

PROVIDER: S-EPMC11245598 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature