“…CHST3 encodes chondroitin 6-O-sulfotransferase 1 (C6ST1), which transfers a sulfate group from 3 -phosphoadenosine 5phosphosulfate (PAPS) to the C-6 hydroxy group of GalNAc residues in CS chains (Figure 3; Fukuta et al, 1998). Homozygous mutations in CHST3 cause spondyloepiphyseal dysplasia with congenital joint dislocations, which is characterized by a short stature, severe kyphoscoliosis, mild brachydactyly, arthritic joints, joint dislocation, rhizomelia, fusion of the carpal bones, metacarpal shortening, osteoarthritis of the elbow, deafness, and ventricular septal, mitral, and/or tricuspid defects (Table 2; Rajab et al, 2004;Thiele et al, 2004;van Roij et al, 2008;Tuysuz et al, 2009;Tanteles et al, 2013;Muys et al, 2016;Waryah et al, 2016;Srivastava et al, 2017). Loss of C6ST activity as well as the decrease of 6-O-sulfated CS were demonstrated in skin fibroblasts from patients (Thiele et al, 2004;van Roij et al, 2008).…”