Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Figure 1

Typical repeating disaccharide units in CS, DS, and HS and their potential sulfation sites. The CS backbone consists of GlcUA and GalNAc, whereas DS is a stereoisomer of CS including IdoUA instead of GlcUA. The HS backbone consists of uronic acid and GlcNAc residues with varying proportions of IdoUA. These sugar moieties may be esterified by sulfate at various positions as indicated by the circled “S.”