Divergent Associations of Rare De Novo Protein-Truncating Variants and Missense Mutations With Developmental Delays in Autism Spectrum Disorder

Abstract

One of the most well-established genetic findings in autism spectrum disorder (ASD) is that rare de novo variants substantially increase risk for developmental delays. To our knowledge, no study to date has distinguished between the developmental effects of two classes of constrained rare variants, protein-truncating variants (PTVs) and missense mutations, as the latter class has only been defined recently (Satterstrom et al., Cell, 2020).