Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder
This study identifies a de novo DCLK1 variant as the causative factor of a progressive neurodevelopmental disorder by integrating cross-species functional genomics in C. elegans and patient-derived neuronal analyses to demonstrate that the mutation induces neurite defects and neurodegeneration, which can be partially rescued by wild-type DCLK1 expression or pathway targeting.