Table 1.
Osteogenesis imperfecta classifications
| Type | Inheritance | Gene | Locus | Clinical features | OMIM |
|---|---|---|---|---|---|
| I [1, 4] | AD | COL1A1 or COL1A2 | 17q21.33 or 7q21.3 | Variable bone fragility, moderate bone deformity, blue sclerae, possible dentinogenesis imperfecta | 166,200 |
| II [1, 26] | AD | COL1A1 or COL1A2 | 17q21.33 or 7q21.3 | Perinatally lethal | 166,210 |
| III [1, 27] | AD | COL1A1 or COL1A2 | 17q21.33 or 7q21.3 | Severe bone fragility, progressively deforming, normal sclerae, dentinogenesis imperfecta, cardiovascular complications, spinal curvature, kyphoscoliosis | 259,420 |
| IV [1] | AD | COL1A1 or COL1A2 | 17q21.33 or 7q21.3 | Moderate bone fragility, moderate deformity, normal sclerae, short stature, possible dentinogenesis imperfecta, kyphoscoliosis | 166,220 |
| V [28, 29] | AD | IFITM5 | 11p15.5 | Moderate to severe bone fragility, radial head dislocation, normal to blue sclerae, normal dentin | 610,967 |
| VI [30] | AR | SERPINF1 | 17p13.3 | Moderately to severe deformity, fish-scale pattern of lamellae, excessive osteoid, normal dentin | 613,982 |
| VII [31] | AR | CRTAP | 3p22.3 | Severe bone fragility, progressively deforming, normal sclerae, severe rhizomelia and coxa vera, normal dentin | 610,682 |
| VIII [32] | AR | LEPRE1 | 1p34.2 | Severe bone fragility, normal sclerae, bulbous metaphyses, round face, short barrel-shaped chest | 610,915 |
| IX [33] | AR | PPIB | 15q22.31 | Severe bone deformity, gray sclerae | 259,440 |
| X [34] | AR | SERPINH1 | 11q13.5 | Multiple bone deformities and fractures, osteopenia, dentinogenesis imperfecta, blue sclerae | 613,848 |
| XI [35] | AR | FKBP10 | 17q21.2 | Mild to severe bone deformity, normal to gray sclerae | 610,968 |
| XII [36] | AR | SP7 | 12q13.13 | Mild bone deformity, normal dentin, normal hearing, normal sclerae | 613,849 |
| XIII [37] | AR | BMP1 | 8p21.3 | Severe growth deficiency, severe bone deformity, normal dentin, light blue sclerae | 614,856 |
| XIV [38] | AR | TMEM38B | 9q31.2 | Variable bone deformity, variable osteopenia, normal dentin, normal sclerae, normal hearing | 615,066 |
| XV [39, 40] | AR | WNT1 | 12q13.12 | Severe bone deformity, short stature, early and recurrent fractures, normal dentin, possible blue sclerae, normal hearing | 615,220 |
| XVI [41] | AR | CREB3L1 | 11p11.2 | Severe bone deformity, beaded ribs, callus formation, cardiac irregularities | 616,229 |
| XVII [42] | AR | SPARC | 5q33.1 | Progressive severe bone fragility, kyphoscoliosis, mild joint hyperlaxity, short stature | 616,507 |
AD autosomal dominant, AR autosomal recessive, OMIM Online Mendelian Inheritance in Man