Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations.

ABSTRACT: People with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear if the same changes to gene function that increase risk to neurodevelopmental disorders also do so for schizophrenia. Using data from 3444 schizophrenia trios and 37,488 neurodevelopmental disorder trios, we show that within shared risk genes, de novo variants in schizophrenia and neurodevelopmental disorders are generally of the same functional category, and that specific de novo variants observed in neurodevelopmental disorders are enriched in schizophrenia (P = 5.0 × 10^-6). The latter includes variants known to be pathogenic for syndromic disorders, suggesting that schi

SUBMITTER: Rees E 

PROVIDER: S-EPMC8429694 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature