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. Author manuscript; available in PMC: 2018 Dec 1.
Published in final edited form as: Ann N Y Acad Sci. 2017 Dec;1410(1):93–106. doi: 10.1111/nyas.13572

Table 3.

Bone Quality Changes in Human Osteogenesis Imperfecta (OI) Bone Tissue

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