Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection.

ABSTRACT: Autism spectrum disorder (ASD) affects up to 1 in 59 children, and is one of the most common neurodevelopmental disorders. Recent genomic studies have highlighted the role of rare variants in ASD. This study aimed to identify genes affected by rare variants shared by siblings with ASD and validate the function of a candidate gene FRRS1L. By integrating the whole genome sequencing data of 866 multiplex families from the Hartwell Foundation's Autism Research and Technology Initiative and Autism Speaks MSSNG project, we identified rare variants shared by two or more siblings with ASD. Using shared rare variants (SRVs), we selected candidate genes for ASD. Gene prioritization by evolutionary features and expression alterations on autism identified FRRS1L in two families, including one with imp

SUBMITTER: Lee KS 

PROVIDER: S-EPMC11698849 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature