Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome. A zebrafish jkamp knockout recapitulates key disease features. Functional studies show that JKAMP deficiency impairs folding and trafficking of the brain-enriched orphan G protein-coupled receptor GPR37, linking endoplasmic reticulum protein quality-control dysfunction to neurodevelopmental disease.