Interestingly, copy number variants (CNV) at BRINP2’s orthologue, BRINP1 (the BRINP1/ASTN2 locus) have previously been linked with neurodevelopmental disorders, with a gain CNV in a patient with autism spectrum disorder (ASD), anxiety and learning disability, and a loss CNV in a patient with developmental delay and seizures, suggesting one or both of these genes having a role in neurodevelopmental disorders21. This evidence concerns the gene ASTN2 and autism spectrum disorder.