Table 1.
Distribution of OI types in the study population of 175 families.
| OI type | Number of families with COL1A1 variant | Number of families with COL1A2 variant | Total number of families with identified variant | Number of families without identified variant | Total |
|---|---|---|---|---|---|
| 1 | 40 | 5 | 45 (42%) | 51 | 96 (55%) |
| 2 | 3 | 0 | 3 (3%) | 0 | 3 (1%) |
| 3 | 25 | 13 | 38 (35%) | 6 | 44 (26%) |
| 4 | 8 | 14 | 22 (20%) | 10 | 32 (18%) |
| Total | 76 | 32 | 108 | 67 | 175 |