Table 5.
Inheritance and genetic characteristics.
| All patients (n = 568) | Patients with pathogenic variants (n = 437) | ||||
|---|---|---|---|---|---|
| n | % | n | % | ||
| Inheritance | No | 97 | 17.1% | 72 | 16.5% |
| Yes | 204 | 35.9% | 122 | 27.9% | |
| Unknown | 267 | 47.0% | 243 | 55.6% | |
| Mutation | No | 131 | 23.1% | ||
| Yes | 437 | 76.9% | 437 | 100.0% | |
| Mutational status | No mutation | 131 | 23.1% | ||
| Homozygosis/compound heterozygosis | 9 | 1.6% | 9 | 2.1% | |
| Heterozygosis | 428 | 75.4% | 428 | 97.9% | |
| Mutated gene | COL1A1 | 313 | 55.1% | 313 | 71.6% |
| COL1A2 | 112 | 19.7% | 112 | 25.6% | |
| CRTAP | 1 | 0.2% | 1 | 0.2% | |
| FKBP10 | 1 | 0.2% | 1 | 0.2% | |
| IFITM5 | 3 | 0.5% | 3 | 0.7% | |
| LEPRE1 | 3 | 0.5% | 3 | 0.7% | |
| PLS3 | 1 | 0.2% | 1 | 0.2% | |
| SERPINF1 | 3 | 0.5% | 3 | 0.7% | |
| Negative for COL1 | 109 | 19.2% | |||
| Negative for COL1− and other genes | 22 | 3.9% | |||
| Dominant mutation | No mutation | 131 | 23.1% | ||
| No | 9 | 1.6% | 9 | 2.1% | |
| Yes | 428 | 75.4% | 428 | 97.9% | |
| Effect of mutation | No mutation or non-COL1 mutation | 143 | 25.2% | 12 | 2.7% |
| Quantitative/haploinsufficiency | 202 | 35.6% | 202 | 46.2% | |
| Qualitative/structural | 223 | 39.3% | 223 | 51.0% | |
| Mutation type | No mutation | 131 | 23.1% | ||
| Splice site | 76 | 13.4% | 76 | 17.4% | |
| Deletion/insertion/duplication/frameshift/big rearrangements | 136 | 23.9% | 136 | 31.1% | |
| Glycine substitution | 129 | 22.7% | 129 | 29.5% | |
| Other missense | 20 | 3.5% | 20 | 4.6% | |
| Nonsense | 72 | 12.7% | 72 | 16.5% | |
| Initiating methionine | 4 | 0.7% | 4 | 0.9% | |