expression, thereby playing a role in neuronal-glial adhesion during migration [55]. ASTN2 has previously gained recognition due to the presence of rare CNV losses in ASD [56, 57]. In a recent study of 89,985 individuals, approximately 71% of whom were reported to have a neurodevelopmental disorder (NDD), a total of 46 deletions and 12 duplication mutations were observed in the ASTN2 gene [58]. Exonic deletions were significantly enriched in the NDD cohort (OR = 2.69 (95% CI 1.13–7.77); P = 0.01). The peak of our association signal at 9q33.1 extends over the 3’ end of ASTN2 corresponding to a region of the gene that encodes the C terminus of the protein, a region with cross-species sequence conservation and strong enrichment of exonic deletions in male NDD cases [58].
