De Novo Variants Predominate in Autism Spectrum Disorder.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is a common condition with substantial personal and financial burdens of lifelong implication. Multiple twin studies have confirmed a genetic or inherited component at ~80%, higher than any other common condition. However, ASD's rapidly accelerating prevalence, now at 1 in 31 in the USA, appears to defy a predominantly genetic basis and implicate our rapidly changing environment. A potential explanation for this paradox is a recent increase in de novo variants (DNVs), which are "new" mutations present in the patient yet absent in both parents. The present authors recently reported using trio whole-genome sequencing (trio-WGS) that DNVs highly likely to be highly disease-associated ("Principal Diagnostic Variants", PDVs), mostly missense var

SUBMITTER: Boles RG 

PROVIDER: S-EPMC12470000 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature