The contributions of rare inherited and polygenic risk to ASD in multiplex families.

ABSTRACT: Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation or its interaction with common polygenic risk in ASD. Here, we performed whole-genome sequencing of the largest cohort of multiplex families to date, consisting of 4,551 individuals in 1,004 families having two or more autistic children. Using this study design, we identify seven previously unrecognized ASD risk genes supported by a majority of rare inherited variants, finding support for a total of 74 genes in our cohort and a total of 152 genes after combined analysis with other studies. Autistic children from multiplex families demonstrate an increased burden of rare inherited p

SUBMITTER: Cirnigliaro M 

PROVIDER: S-EPMC10400943 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature