Genetic findings of the probands
| Proband | COL9A2 | COL9A3 | COL11A2 IVS6−4 a/t | AGC1 VNTR* | VDR 2T>C | VDR 352T>C | MMP-3, 5′-UTR -1171Δa | |
|---|---|---|---|---|---|---|---|---|
| Trp2 | IVS26−2 a/c | Trp3 | ||||||
| *Number of repeats, 23 repeats correspond to the fragment size 1.95 kb. | ||||||||
| 1 | −/− | −/− | +/+ | t/t | 27/28 | FF | Tt | 5a/6a |
| 2 | −/− | −/− | −/− | t/t | 28/28 | FF | tt | 5a/5a |
| 3 | −/− | −/− | −/− | t/a | 28/28 | Ff | Tt | 5a/6a |
| 4 | −/− | −/− | −/− | t/t | 28/29 | FF | TT | 6a/6a |
| 5 | −/− | −/− | −/− | t/t | 28/28 | FF | Tt | 5a/5a |
| 6 | −/− | −/− | −/− | t/t | 28/28 | ff | Tt | 6a/6a |
| 7 | −/− | −/− | −/− | t/t | 28/28 | Ff | TT | 6a/6a |
| 8 | −/− | −/− | −/− | t/t | 27/30 | Ff | tt | 6a/6a |
| 9 | −/− | −/− | −/− | t/t | 28/28 | FF | Tt | 6a/6a |
| 10 | −/− | −/− | −/− | t/t | 27/28 | ff | tt | 5a/6a |
| 11 | −/− | −/− | −/− | t/t | 27/27 | ff | TT | 5a/6a |
| 12 | −/− | −/− | −/− | t/t | 27/29 | ff | Tt | 5a/5a |
| 13 | −/− | −/− | −/− | t/t | 27/27 | Ff | Tt | 5a/6a |
| 14 | −/− | −/− | −/+ | t/t | 27/27 | FF | TT | 6a/6a |
| 15 | −/− | −/− | −/− | t/t | 25/28 | Ff | Tt | 6a/6a |
| 16 | −/− | −/− | −/− | t/t | 27/28 | FF | TT | 5a/6a |
| 17 | −/− | −/− | −/− | t/a | 27/27 | Ff | TT | 5a/6a |
| 18 | −/− | −/− | −/− | t/t | 28/28 | ff | Tt | 6a/6a |
| 19 | −/− | −/− | −/− | t/t | 27/27 | Ff | TT | 6a/6a |
| 20 | −/+ | −/− | −/− | t/a | 28/28 | FF | tt | 5a/6a |
| 21 | −/− | −/− | −/− | t/t | 29/29 | FF | TT | 5a/5a |
| 22 | −/− | −/− | −/− | t/t | 27/27 | Ff | Tt | 5a/6a |
| 23 | −/− | −/+ | −/− | t/t | 23/28 | FF | Tt | 6a/6a |
| 24 | −/− | −/− | −/− | t/t | 27/27 | Ff | TT | 5a/6a |
| 25 | −/− | −/− | −/− | t/a | 28/28 | ff | TT | 5a/6a |
| 26 | −/− | −/− | −/+ | t/t | 27/27 | Ff | tt | 5a/5a |
| 27 | −/− | −/− | −/+ | t/t | 28/28 | Ff | tt | 6a/6a |
| 28 | −/− | −/− | −/− | t/t | 29/29 | FF | TT | 5a/6a |
| 29 | −/− | −/− | −/− | t/t | 28/28 | Ff | TT | 6a/6a |