Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.

ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restrictive interests and/or repetitive behaviors and deficits in social interaction and communication. ASD is a multifactorial disease with a complex polygenic genetic architecture. Its genetic contributing factors are not yet fully understood, especially large structural variations (SVs). In this study, we aimed to assess the contribution of SVs, including copy number variants (CNVs), insertions, deletions, duplications, and mobile element insertions, to ASD and related language impairments in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Within the cohort, ~77% of the families contain SVs that followed expected segregation or de novo patterns and passed our filtering criteria. These SVs

SUBMITTER: Alibutud R 

PROVIDER: S-EPMC10487745 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature