Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

Abstract

The increased susceptibility to ASD in patients with WBS might be due to additive effects of the common WBS deletion, inherited and de novo rare sequence variants in ASD-related genes elsewhere in the genome, with higher burden of deleterious mutations required for females, and possible hypomorphic variants in the hemizygous allele or <i>cis</i>-acting mechanisms on imprinting.