Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Lara TangTess LevySylvia B GuilloryDanielle HalpernJessica ZweifachIvy Giserman-KissJennifer H Foss-FeigYitzchak FrankReymundo LozanoPuneet B BelaniChristina LaytonBonnie LermanEmanuel FrownerMichael S BreenSilvia De RubeisAna KosticAlexander KolevzonJoseph D BuxbaumPaige M SiperDorothy E GricePublished in: Molecular autism (2021)
This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes.