Table 3.
OI Type | Mutation | Technique | Observation vs. Control |
---|---|---|---|
OI Type I | qualitative and quantitative combined type I collagen mutations | qBEI, SAXS, BMDD90 Raman (newly formed tissue)91 |
No change in particle width; OI tissue denser packing of particles 90 Relative GAG content reduced, nano-porosity reduced, PYD content increased in quantitative group Crystallite length reduced – both91 |
OI Type II | perinatal lethal – type I collagen mutations | X-ray diffraction92 | Small crystals 92 |
OI Type VI | mutation in SERPINF1 leading to loss-of- function of pigment epithelium-derived factor (PEDF) | BMDD, SAXS | Highly mineralized matrix with low mineral content 93 |
OI Type VII | hypomorphic mutations with CRTAP expression | BMDD | Increased mineralization81 |
OI Type VIII | null mutations in P3H1, encoding prolyl 3- hydroxylase 1. | Histomorphometry, qBEI, BMDD | Decreased cortical width; thin trabeculae; patches of increased osteoid; hypermineralization 94 |