PLOD1 and Ehlers-Danlos syndrome: Deficiency of LH1 in humans due to mutations of the PLOD1 gene has been identified as the pathogenic cause of the kyphoscoliotic subtype (subtype VIA) of Ehlers-Danlos syndrome (EDS), which is a rare heterogeneous group of heritable ECM disorders characterized by progressive kyphoscoliosis, congenital muscular hypotonia, joint hypermobility and severe skin fragility 9.