. 2021 Jun 16;10(7):767–775. doi: 10.1530/EC-21-0102
This work is licensed under a Table 5.
Comparison between the two identified mutations (c.367+1G>A and c.768dupT) (clinical presentation and response to treatment).
| c.768dupT (n = 15) | c.367+1G>A (n = 12) | |||
|---|---|---|---|---|
| Homozygous (n = 10) | Heterozygous (n = 5) | Homozygous (n = 8) | Heterozygous (n = 4) | |
| Clinical presentation: | ||||
| Bone pain | 9/10 | 3/5 | 7/8 | 4/4 |
| Short stature | 4/10 | 2/5 | 5/8 | 1/4 |
| Limitation of activity | 6/10 | 4/5 | 7/8 | 1/4 |
| Bone deformity | 3/10 | 0/5 | 4/8 | 1/4 |
| Gait abnormality | 4/10 | 0/5 | 2/8 | 1/4 |
| Hypocalcemic manifestation | 2/10 | 0/5 | 2/8 | 0/4 |
| Abnormal bone profile | 8/10 | 2/5 | 8/8 | 2/4 |
| Response to treatment | ||||
| Yes | 5/10 | 5/5 | 8/8 | 4/4 |
| No | 5/10 | 0/5 | 0/8 | 0/4 |
| Maintenance therapy | ||||
| Weekly | 4/10 | 0/5 | 2/8 | 1/4 |
| Twice monthly | 1/10 | 1/5 | 2/8 | 0/4 |
| Monthly | 0/10 | 4/5 | 4/8 | 3/4 |
| 1,25-(OH)2 vitamin D | 5/10 | 0/5 | 0/8 | 0/3 |