Table 2.
OI genetic nomenclature combined with causative genes and phenotypes
| OI clinical type | Mutated gene | Genetic OI type | OMIM | Inheritance | Protein product | Phenotype |
|---|---|---|---|---|---|---|
| OI 1 | COL1A1 | I-IV | 166,200 | AD, AR | Collagen α1(I) | Non deforming OI with blue sclera; Common variable OI with normal sclera; Progressively deforming |
| OI 2 | 166,210 | |||||
| OI 3 | 259,420 | |||||
| OI 4 | 166,220 | |||||
| OI 1 | COL1A2 | I-IV | 166,200 | AD, AR | Collagen α2(I) | Non deforming OI with blue sclera; Common variable OI with normal sclera; Progressively deforming |
| OI 2 | 166,210 | |||||
| OI 3 | 259,420 | |||||
| OI 4 | 166,220 | |||||
| OI 5 | IFITM5 | V | 610,967 | AD | Bone-restricted interferon-induced transmembrane protein-like protein (BRIL; also known as IFITM5) | OI with calcification in interosseous membranes, hyperplastic callus, radial head dislocation or severe bone deformity with grey sclera |
| OI 3 | ||||||
| OI 3 | SERPINF1 | VI | 613,982 | AR | Pigment epithelium-derived factor (PEDF) | Progressively moderate to severe deforming, osteoid, fish-scale appearance of bone lamella |
| OI 3 | CRTAP | VII | 610,682 | AR | Cartilage-associated protein (CRTAP) | Progressively deforming, severe rhizomelia, white sclera |
| OI 2 | ||||||
| OI 3 | P3H1 (LEPRE1) | VIII | 610,915 | AR | Prolyl 3-hydroxylase 1 (P3H1) | Progressively deforming, severe rhizomelia, white sclera |
| OI 2 | ||||||
| OI 3 | PPIB | IX | 259,440 | AR | Peptidyl-prolyl cis–trans isomerase B (PPIase B) | Severe bone deformity with grey sclera |
| OI 2 | ||||||
| OI 3 | SERPINH1 | X | 613,848 | AR | Serpin H1 (also known as HSP47) | Severe skeletal deformity, blue sclera, dentinogenesis imperfecta, skin abnormalities and inguinal hernia |
| OI 3 | FKBP10 | XI | 610,968 | AR | 65 kDa FK506-binding protein (FKBP65) | Mild-to-severe skeletal deformity, normal-to-grey sclera and congenital contractures |
| OI 3 | BMP1 | XII | 614,856 | AR | Bone morphogenetic protein 1 (BMP1) | Mild-to-severe skeletal deformity and umbilical hernia |
| OI 3 | SP7 | XIII | 613,849 | AR | Transcription factor SP7 (also known as osterix) | Severe skeletal deformity with delayed tooth eruption and facial hypoplasia |
| OI 4 | ||||||
| OI 3 | TMEM38B | XIV | 615,066 | AR | Trimeric intracellular cation channel type B (TRIC-B; also known as TM38B) | Severe bone deformity with normal-to-blue sclera |
| OI 3 | WNT1 | XV | 615,220 | AD, AR | Proto-oncogene Wnt-1 (WNT1) | Severe skeletal abnormalities, white sclera and possible neurological defects |
| OI 4 | ||||||
| OI 2 | CREB3L1 | XVI | 616,229 | AR | Old astrocyte specifically induced substance (OASIS; also known as CR3L1) | Progressively severe deforming, respiratory deficiency |
| OI 3 | ||||||
| OI 3 | SPARC | XVII | 616,507 | AR | SPARC (also known as osteonectin) | Progressively severe deforming, severe fragility |
| OI 3 | TENT5A (FAM46A) | XVIII | 617952 | AR | Terminal nucleotidyltransferase 5A | Progressively moderate to severe, congenital bowing of the lower limbs |
| OI 3 | MBTPS2 | XIX | 301014 | XLR | Membrane-bound transcription factor site-2 protease (S2P) | Progressively moderate to severe deforming, light blue sclera |
| OI 3 | PLOD2 | No type | 609,220 | AR | Lysyl hydroxylase 2 (LH2) | Progressively moderate to severe deforming, joint contractures |
| OI 3 | MESD | XX | 618,644 | AR | Mesoderm development LRP chaperone | Progressive deforming OI, oligodontia |
| OI 4 | PLS3 | No type | 300910 | XLR | Plastin 3 | Common variable OI with normal sclera, normal height |
| OI 3 | NBAS | No type | 614800 | AR | Neuroblastoma amplified sequence | Progressively moderate to severe deforming, intellectual disability, liver failure, optic nerve atrophy |
| OI 3 | SEC24D | No type | 616294 | AR | Protein transport protein Sec24D | Bone fragility, skull ossification defects, craniofacial dysmorphism |
| OI 3 | CCDC134 | No type | 618,788 | AR | Coiled-coil domain containing protein 134 | Bone fragility, Wormian bones, limited joint mobility, pseudoarthroses |