Transcriptomic Convergence and the Female Protective Effect in Autism.

ABSTRACT: Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by deficits in social communication as well as restricted and/or repetitive behaviors. ASD is highly heritable¹, with a complex genetic architecture: large-scale studies have identified dosage-altering copy number variants (CNV) and single nucleotide variants (SNV) that implicate hundreds of genes as individually rare causes of ASD (ASD genes)^2-4, with common variation at multiple loci also contributing substantially to risk⁵. Understanding how disruptions to these functionally diverse genes lead to the shared core features of ASD remains a major challenge⁶. Moreover, ASD is three- to four-fold more common in males than females^7,8, and autistic female

SUBMITTER: Andersen RE 

PROVIDER: S-EPMC11785016 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature