Table 1 A list of these genes together with the encoded proteins that are changed as well as the mode of inheritance
From: Osteogenesis imperfecta—pathophysiology and therapeutic options
Gene | OMIM gene | Protein | Phenotype | OMIM phenotype |
|---|---|---|---|---|
Autosomal-dominant inheritance | ||||
COL1A1 | 120150 | Collagen α1(I) chain (COL1A1) | OI type I OI type II OI type III OI type IV | 166200 166210 259420 166220 |
COL1A2 | 120160 | Collagen α2(I) chain (COL1A2) | ||
IFITM5 | 614757 | Interferon-induced transmembrane protein 5 (IFITM5) Alternative: Bone-restricted interferon-induced transmembrane protein-like protein (BRIL) | OI type V | 610967 |
P4HB | 176790 | Protein disulfide-isomerase (PDI) alternative: Prolyl 4-hydroxylase subunit beta (P4HB) | Cole-Carpenter syndrome type 1 | 112240 |
Autosomal-recessive inheritance | ||||
SERPINF1 | 172860 | Pigment epithelium-derived factor (PEDF) | OI type VI | 613982 |
CRTAP | 605497 | Cartilage-associated protein (CRTAP) | OI type VII | 610682 |
P3H1 | 610339 | Prolyl 3-hydroxylase 1 (P3H1) | P3H1 | 610339 |
PPIB | 123841 | Peptidyl-prolyl cis-trans isomerase B (PPIB) Alternative: Cyclophilin B | OI type IX | 259440 |
SERPINH1 | 600943 | Serpin peptidase inhibitor, clade H, member 1 (Serpin H1) Alternative: Heat shock protein 47 (HSP47) | OI type X | 613848 |
FKBP10 | 607063 | Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) Alternative: 65 kDa FK506-binding protein (FKBP65) | Bruck syndrome type 1 OI type XI | 259450 610968 |
SP7 | 606633 | Transcription factor Sp7 Alternative: Zinc finger protein osterix | OI type XII | 613849 |
BMP1 | 112264 | Bone morphogenetic protein 1 (BMP1) | OI type XIII | 614856 |
TMEM38B | 611236 | Trimeric intracellular cation channel type B (TRIC-B) Alternative: Transmembrane protein 38B (TMEM38B) | OI type XIV | 615066 |
WNT1 | 164820 | Proto-oncogene Wnt1 (wingless-type MMTV integration site family, member 1, WNT1) | OI type XV | 615220 |
CREB3L1 | 616215 | Cyclic AMP-responsive element-binding protein 3-like protein 1 (CR3L1) | OI type XVI | 616229 |
SPARC | 182120 | Secreted protein acidic and rich in cysteine (SPARC) | OI type XVII | 616507 |
TENT5A | 611357 | Terminal nucleotidyltransferase 5A (TENT5A) Alternative: Family with sequence similarity 46, member A (FAM46A) | OI type XVIII | 617952 |
MESD | 607783 | Mesoderm development LRP chaperone (MESD) | OI type XX | 618644 |
PLOD2 | 601865 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (PLOD2) Alternative: Lysyl hydroxylase 2 (LH2) | Bruck syndrome type 2 | 609220 |
SEC24D | 607186 | Protein transport protein Sec24D (SEC24D) Alternative: SEC24-related protein D | Cole-Carpenter syndrome type 2 | 616294 |
X-linked inheritance | ||||
MBTPS2 | 300294 | Membrane-bound transcription factor site-2 protease (MBTPS2) Alternative: Endopeptidase S2P | OI type XIX | 301014 |
PLS3 | 300131 | Plastin-3 (PLS3) | Osteoporosis (X-linked dominant) | 300910 |