Table 2.
Causes of osteogenesis imperfecta, involved genes, location, inheritance, and gene products
| Osteogenesis imperfecta | OMIM | Inheritance | Gene | Location | Gene product |
|---|---|---|---|---|---|
| Type I |
166200 |
AD |
COL1A1 |
17q21.33 |
Collagen, Type I, Alpha-1 |
| Type II |
166210 |
AD |
COL1A1 |
17q21.33 |
Collagen, Type I, Alpha-1 |
| |
166210 |
AD |
COL1A2 |
7q21.3 |
Collagen, Type I, Alpha-2 |
| Type III |
259420 |
AD |
COL1A1 |
17q21.33 |
Collagen, Type I, Alpha-1 |
| |
259420 |
AD |
COL1A2 |
7q21.3 |
Collagen, Type I, Alpha-2 |
| Type IV |
166220 |
AD |
COL1A2 |
7q21.3 |
Collagen, Type I, Alpha-2 |
| |
166220 |
AD |
COL1A1 |
17q21.33 |
Collagen, Type I, Alpha-1 |
| Type V |
610967 |
AD |
IFITM5 |
11p15.5 |
Interferon-induced transmembrane protein-5 |
| Type VI |
613982 |
AR |
SERPINF1 |
17p13.3 |
Serpin peptidase inhibitor |
| |
610682 |
AR |
CRTAP |
3p22.3 |
Cartilage-associated protein |
| |
610915 |
AR |
LEPRE1 |
1P34.2 |
Leucine- and Proline-Enriched Proteoglycan 1 |
| Type IX |
259440 |
AR |
PPIP |
15q22.31 |
Peptidyl-prolyl isomerase b |
| Type X |
613848 |
AR |
SERPINH1 |
11q13.5 |
Serpin peptidase inhibitor, Clade H, Member 1 |
| Type XI |
610968 |
AR |
FKBP10 |
17q21.2 |
FK506-binding protein 10 |
| Type XII |
613849 |
AR |
SP7 |
12q13.13 |
Transcription factor Sp7 |
| Type XIII |
614856 |
AR |
BMP1 |
8q21.3 |
Bone morphogenetic protein 1 |
| Type XIV |
615066 |
AR |
TMEN38B |
9q31.2 |
Transmembrane Protein 38B |
| Type XV | 615220 | AR | WNT1 | 12q13.12 | Wingless-type MMTV Integration Site Family, Member 1 |
Note. This table lists only the most frequent types according to the recent literature.