Deficiency of procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) or lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 was identified as pathogenic cause of kEDS [4]. Here, PLOD1 is linked to Ehlers-Danlos syndrome, kyphoscoliotic type 1.