Table 1.
Characteristics of the bone study group and the Australian RTT population greater than 4 years who did not participate in the study
| Bone study group n=97 |
Remainder of RTT population >4 years n=177 |
|
|---|---|---|
| *Age mean±SD | 15.00 ± 7.16 | 10.09 ± 7.10 |
| **Epilepsy n(%) | ||
| No | 24(24.7%) | 28(16.1%) |
| Yes | 73(75.3%) | 146(83.9%) |
| §Mutation n(%) | ||
| C-Terminal | 12(12.4%) | 10(5.9%) |
| Large Deletion | 7(7.2%) | 7(4.1%) |
| No Mutation | 20(20.6%) | 37(21.9%) |
| Other | 9(9.3%) | 20(11.8%) |
| p.R106W | 3(3.1%) | 5(3.0%) |
| p.R133C | 6(6.2%) | 12(7.16%) |
| p.R168X | 10(10.3%) | 9(5.3%) |
| p.R255X | 5(5.2%) | 9(5.3%) |
| p.R270X | 3(3.1%) | 12(7.1%) |
| p.R294X | 7(7.2%) | 11(6.5%) |
| p.R306C | 6(6.2%) | 7(4.1%) |
| T158M | 7(7.2%) | 13(7.7%) |
| Not tested | 2(2.1%) | 14(8.3%) |
p=0.001
p=0.363
p=0.0833