PLOD1 regulates the hydroxylation of lysyl residues on collagen type V. The duplication of the exon 10 to exon 16 region of PLOD1 (p.Glu326_Lys585dup) gene (Pousi et al., 1994; Giunta et al., 2005) and two mutations on Gln208 and Tyr675 cause the loss function of PLOD1, which may lead to EDS VIA (Abdalla et al., 2015; van Dijk et al., 2017). This evidence concerns the gene PLOD1 and Ehlers-Danlos syndrome, kyphoscoliotic type.