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. 2016 Apr 13;7:212–220. doi: 10.1016/j.ebiom.2016.04.005

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).