Table 2.
Mutation detection in familial and de novo NF1 patients.
| Type mutation | Familial number | Familial %+ | De novo number | De novo % | p value | Sporadic ≥ 6 CAL group | ≥ 6 CAL % |
|---|---|---|---|---|---|---|---|
| WGD on MLPA (type 1;2;3) |
6 (5;1;0) |
3.61% | 15 (13;1;1) |
8.24% | 0.076 | 1 | 2.13% |
| MLPA deletion | 3 | 1.81% | 4 | 2.20% | Ns | 1 | 2.13% |
| Frameshift | 53 | 31.93% | 61 | 33.52% | ns | 10 | 21.28% |
| IFD | 7 | 4.22% | 6 | 3.30% | Ns | 1 | 2.13% |
| Nonsense | 35 | 21.08% | 41 | 22.53% | Ns | 15 | 31.91% |
| Missense class 4/5 | 7 | 4.21% | 7⁎ | 3.85% | 6⁎ | 12.77% | |
| Missense class 3 | 11 | 6.63% | 6⁎ | 3.30% | 0.26 | 3⁎ | 6.38% |
| Splice site | 40 | 24.10% | 40 | 21.98% | Ns | 10 | 21.28% |
| 5′ UTR class 4/5 | 3 | 1.81% | 1 | 0.55% | ns | 0 | 0.00% |
| 5′UTR class 3 | 1 | 0.60% | 1 | 0.55% | ns | 0 | 0.00% |
| Total variant found | 166 | 97.08% | 182 | 95.79% | 0.58 | 47 | 66.2% |
| Total pathogenic variant found | 154 | 90.06% | 175 | 92.10% | ns | 44 | 62.0% |
| No mutation | 5 | 8 | 24 | ||||
| All tested | 171 | 190 | 71 | ||||
| Only identified through RNA | 21 | 12.65% | 20 | 10.99% | ns | 3 | 6.40% |
| Truncating | 88 | 53.01% | 102 | 56.04% | 0.39 | 25 | 53.19% |
| Non truncating | 29 | 17.47% | 21 | 11.54% | 0.29 | 10 | 21.28% |
+ Mutation proportions are of total where mutation was found.
Ns —not significant; WGD —whole gene deletion; IFD in frame deletion; 5′ UTR —untranslated region.
+ This is percentage of found mutations.
⁎
difference between de novo NIH criteria with at least one non-pigmentary criterion and de novo ≥ 6 CAL group significant for missense variants (p = 0.023).