Insights into DDX3X syndrome from a novel mouse model with construct and face validity

Mutations in the X-linked gene DDX3X account for approximately 2% of intellectual disability in females, often comorbid with behavioral problems, motor deficits, and brain malformations. DDX3X encodes an RNA helicase with emerging functions in corticogenesis and synaptogenesis.We generated a Ddx3x haploinsufficient mouse (Ddx3xDdx3xThese data shed new light on the developmental mechanisms driving DDX3X syndrome and support construct and face validity of this novel preclinical mouse model.