Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Abstract

Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy.