Most kEDS patients have a variant in the PLOD1 gene, which encodes the collagen-modifying enzyme-lysine and 2-oxyglutarate-5-dioxygenase 1 (PLOD1 or lysine hydroxylase 1) (3). The gene discussed is PLOD1; the disease is Ehlers-Danlos syndrome, kyphoscoliotic type 1.