While the musculoskeletal symptoms are found in disorders caused by mutations in extracellular matrix (ECM) proteins, in particular collagen which is the most abundant protein in humans2,3, kEDS results from the deficiency of two proteins participating in collagen biosynthesis in the rough Endoplasmic Reticulum (rER): the post-translational modifying enzyme Lysyl Hydroxylase 1 (LH1 encoded by PLOD1)4,5 and the peptidyl-prolyl cis/trans isomerase (PPIase) family protein FK506-binding protein 22 kDa (FKBP22 encoded by FKBP14)6,7. The gene discussed is PLOD1; the disease is Ehlers-Danlos syndrome, kyphoscoliotic type 1.