Table 2.
Predicted Risk of Transmission of Full Mutation Allele By Maternal Total CGG Repeat Length and Number of AGG Interruptions
| CGG Repeat Length | 55a | 60 | 65 | 70 | 75 | 80 | 85 | |
|---|---|---|---|---|---|---|---|---|
| Number of AGG interruptions | 0 | 2.6% (0.7%, 9.5%)c | 8.2% (2.9%, 21.1%) | 22.9 (11.1%, 41.2%) | 49.6% (32.9%, 66.3%) | 76.5% (62.8%, 86.3%) | 91.5% (83.5%, 95.9%) | 97.3% (93.2%, 99%) |
| 1 | 1.1% (0.2%, 4.9%) | 3.5% (1%, 11.4%) | 10.7% (4.2%, 24.8%) | 28.5% (15.2%, 46.9%) | 56.9% (40.3%, 72.2%) | 81.4% (68.8%, 89.7%) | 93.6% (86.3%, 97.1%) | |
| 2 | 0.1% (0%, 1%) | 0.4% (0.1%, 2.5%) | 1.2% (0.2%, 6%) | 4% (1%, 14.3%) | 12% (4%, 31%) | 31.2% (13.9%, 56.1%) | 60.1% (36.4%, 79.8%) | |
| Differential riskb | 2.5% | 7.8% | 21.7% | 45.6% | 63.5% | 60.3% | 37.2% | |
| CGG Repeat Length | 90 | 95 | 100 | 105 | 110 | 115 | 120 | |
| Number of AGG interruptions | 0 | 99.2% (97.2%, 99.8%) | 99.7% (98.9%, 99.9%) | 99.9% (99.5%, 100%) | 100% (99.8%, 100%) | 100% (99.9%, 100%) | 100% (100%, 100%) | 100% (100%, 100%) |
| 1 | 98% (94.4%, 99.3%) | 99.4% (97.7%, 99.8%) | 99.8% (99.1%, 100%) | 99.9% (99.6%, 100%) | 100% (99.8%, 100%) | 100% (99.9%, 100%) | 100% (100%, 100%) | |
| 2 | 83.3% (64.7%, 93.1%) | 94.3% (84.3%, 98.1%) | 98.2% (93.6%, 99.5%) | 99.5% (97.5%, 99.9%) | 99.8% (99%, 100%) | 100% (99.6%, 100%) | 100% (99.8%, 100%) | |
| Differential risk | 15.9% | 5.4% | 1.7% | 0.5% | 0.2% | 0% | 0% |
a
Number designates the lower bound for the given bin (e.g., 55 = 55–59 CGG repeats)
b
Difference in risk of full mutation expansion (0 versus 2 CGG repeats), for a given total CGG repeat length.
c
Numbers in parenthesis denote the 95% confidence interval for the predicted risk