Table 2.
Osteogenesis imperfecta
| Phenotype | Typical features | Clinical type | Genetic type | Inheritance | Gene/protein defect | Protein defect |
|---|---|---|---|---|---|---|
| Non‐deforming form | Mild to moderate bone fragility, normal or near normal stature, most have blue sclerae, normal dentition, hearing loss in ~50%. | OI type 1 | OI type 1 | AD |
COL1A1 COL1A2 |
Collagen I haploinsufficiency |
| Perinatally lethal form | Extreme bone fragility, short stature, long bone bowing | OI type 2 |
OI type 2 OI type 7 OI type 8 OI type 9 |
AD AR |
COL1A1 COL1A2 CRTAP LEPRE1/P3H1 PPIB/CYPB |
Collagen I structural mutations Collagen posttranslational modification and folding machinery |
| Progressively deforming OI |
Moderate to severe bone deformity, blue sclerae at birth, hearing loss and abnormal dentition common. |
OI type 3 |
OI type 3 OI type 7 OI type 8 OI type 9 OI type 10 OI type 11 No type OI type 16
OI Cole‐Carpenter Like
OI type 12
OI type 15 OI type 10
OI type 14
OI type 13 |
AD
AR |
COL1A1 COL1A2 CRTAP LEPRE1/P3H1 PPIB/CYPB FKBP10/FKBP65 SERPINH1/HSP47 PLOD2/ LH2 CREB3L1/OASIS
SEC24D
BMP1
WNT1 SERPINF1/PEDF
TMEM38B/TRIC‐B
SP7/OSX |
Collagen I structural mutations Collagen posttranslational modification and folding machinery
Protein folding/endoplasmic reticulum stress sensor COPII vesicle component—collagen secretion Proteolytic removal of procollagen N‐propeptide Wnt cell signaling pathway Signaling and collagen binding protein, important for mineralization Endoplasmic reticulum cation channel. Transcription factor, bone formation |
| Common Variable OI with normal sclerae | Mild to moderate, bone fragility, normal sclerae, variable dentition, hearing loss in <10%. | OI type 4 |
OI type 4
OI type 15
OI type 7 OI type 11 OI type 9 OI type 6
OI type 17
OI type 13 |
AD
AR |
COL1A1 COL1A2 WNT1
CRTAP FKBP10/FKBP65 PPIB/CYPB SERPINF1/PEDF
SPARC
SP7/OSX |
Collagen I structural mutations
Wnt cell signaling pathway Collagen posttranslational modification and folding machinery Signaling and collagen binding protein, important for mineralization Collagen binding/extracellular matrix assembly Transcription factor, bone formation |