Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

ABSTRACT: Autism is highly heritable and diagnosed more frequently in males than females. To identify neurodevelopmental processes that might present sex-biased vulnerability, we generated transcriptomic and epigenomic profiles of cell types present in the prenatally developing human cerebral cortex of 27 males and 21 females. By intersecting sex-biased molecular signatures and genes with de novo mutations in male and female autistic probands, we reveal two points of vulnerability contributing to the sex-biased penetrance in neurodevelopmental disorders (NDDs). First, we show that NDD risk genes are biased towards higher expression in females, identifying the NDD gene MEF2C as a critical transcription factor for female-biased expression. Second, we identify a significant contribution o

SUBMITTER: Hennick K 

PROVIDER: S-EPMC12424995 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature