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It is demonstrated that a scalable, quantitative assay capturing STXBP1 stability and syntaxin-binding behavior can differentiate benign from pathogenic variants and provide functional insights into mechanisms of pathogenicity.
Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.
A feasible natural history protocol with prospective data for two complex neurodevelopmental disorders with natural histories that have previously been incompletely characterized is presented, within a regulatory framework that will support the use of these data to expedite clinical trial development.
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