Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

This manuscript firmly establishes ASTN1 as a recessive neurodevelopmental disease gene, broadens the phenotypic spectrum of ASTN1-related neurodevelopmental disorders, provides further evidence for the contribution of splicing aberration to neurodevelopmental disorders, and highlights the contribution of multilocus pathogenic variation to the prevalence of neurodevelopmental disorders.