Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.

ABSTRACT:

Background

Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are relatively easier to interpret their effects on the gene product. Interpretation of missense variants is also informative to some pathophysiological mechanisms of these neurodevelopmental disorders; however, their contribution has not been elucidated because of relatively small effects. Therefore, we characterized missense variants detected in NRXN1, a well-known neurodevelopmental disease-causing gene, from individuals with ASD and SCZ.

Methods

To discover rare variants with large effect size and to evaluate their role in the shared etiopathophysiology of ASD an

SUBMITTER: Ishizuka K 

PROVIDER: S-EPMC7496212 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature