Table 1.
Clinical features and detected mutations of OI patients
| Clinical data | MOOI-I 1 | MOOI-III 2 | MOOI-III 3 | MOOI-I 4 |
|---|---|---|---|---|
| OI Type*1 |
I |
III |
III |
I |
| Gender |
M |
F |
M |
F |
| Age (years) |
26 |
23 |
15 |
41 |
| Family history |
No |
No |
No |
No |
| Number of fractures |
+ 30 |
+ 30 |
+ 30 |
− 30 |
| Bone deformities |
Yes |
Yes |
Yes |
Yes |
| Blue sclera |
Yes |
Yes |
Yes |
Yes |
| Dentinogenesis imperfecta |
Yes |
Yes |
Yes |
Yes |
| Hearing loss |
No |
No |
Yes |
Yes |
| Mutation | COL1A1 c.3076C > T, Arg1026X | COL1A2 c.2503G > A, Gly835Ser | COL1A1 c. 869G > A, Gly290Glu | COL1A1 c.198_204dupCAAGGTG, Leu69Glu-fsX74 |
*1According to Sillence et al. [2].