Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits.

ABSTRACT: Autism is a highly heritable, heterogeneous, neurodevelopmental condition. Large-scale genetic studies, predominantly focussing on simplex families and clinical diagnoses of autism have identified hundreds of genes associated with autism. Yet, the contribution of these classes of genes to multiplex families and autistic traits still warrants investigation. Here, we conducted whole-genome sequencing of 21 highly multiplex autism families, with at least three autistic individuals in each family, to prioritise genes associated with autism. Using a combination of both autistic traits and clinical diagnosis of autism, we identify rare variants in genes associated with autism, and related neurodevelopmental conditions in multiple families. We identify a modest excess of these variants in autisti

SUBMITTER: More RP 

PROVIDER: S-EPMC10575770 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature