11 Chapter 1 OI Type Clinical features Mutated gene(s) Mode of inheritance* Pathway 1 Mild to moderate deformation, blue sclerae, normal stature COL1A1/2 AD Genes encoding (pro) collagen chain/fibril: start of pathway CREB3L1 AR ER stress response 2 Perinatal lethality COL1A1/2 See type 1 CREB3L1 See type 1 CRTAP Posttranslational modification KDELR2 Retrograde vesicle transport LEPREI Posttranslational modification PPIB Posttranslational modification 3 Progressively deforming with bowing, scoliosis and low bone density. Short stature and dentinogenesis imperfecta BMP1 AR Extracellular processing COL1A1/2 See type 1 CCDC134 AR Regulation of MAPK CREB3L1 See type 1 CRTAP Posttranslational modification IFITM5 Matrix mineralisation FAM46A Unknown FKBP10 Posttranslational modification KDELR2 See type 2 LEPREI See type 2 MBTPS2 XL ER stress response MESD AR WNT signaling pathway PLOD2 Posttranslational modification PPIB See type 2 SERPINF1 Matrix mineralisation SERPINH1 Posttranslational modification SP7 Bone cell diff. and sign TMEM38B Posttranslational modification/Ca2+ homeostasis WNT1 Bone cell diff. and sign 4 Mild to moderate deformation, white sclerae, variable fracture rate. COL1A1/2 See type 1 PLS3 XL Actin-bundling protein PPIB See type 2 SP7 See type 3 SPARC Extracellular matrix WNT1 See type 3 5 Mild deformation, calcification in interosseous membranes and hypercallus during fracture healing IFITM5 AD Matrix mineralisation NBAS AD Retrograde transport * Autosomal dominant (AD), autosomal recessive (AR) and recessive X-linked (XL) Table derived from van Dijk and Sillence , 2014 and Claeys et al. 2021 7,8. Table 1 Clinical features, mutated genes, and pathways of the different OI types
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