Table 2.
Summary of clinical features and germ line NF1 mutation type in 18 patients lacking peripheral neurofibromas
| Patient ID | Sex/age (years) | Mutation type | NIH | CNF/ SCNF | PNF | SpNF | 6-99 CALs | Skin freckling | Other NF1 features/ complications |
|---|---|---|---|---|---|---|---|---|---|
| S149 |
F/24 |
Missense K1423E |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
Low grade MPNST |
| S174 |
M/adult |
Missense W1931R |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
none |
| 462 |
F/43 |
Missense F1193C |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
Offspring-same phenotype |
| 482 |
F/39 |
Missense W837R |
Y |
0 |
Y |
0 |
Y |
B/L axilla |
GIST tumor |
| 2198 |
M/22 |
Missense M11491 |
N |
0 |
0 |
0 |
Y |
N |
Mild learning difficulties/ CALs onlya |
| 2444 |
M/24 |
Missense L1812P |
Y |
0 |
0 |
0 |
Y |
B/L axilla/groin |
CNS glioma |
| 2483 |
F/29 |
Nonsense R1748X |
Y |
0 |
0 |
0 |
Y |
extensive |
none |
| 2512 |
M/22 |
Nonsense R416X |
Y |
O |
Y |
0 |
Y |
Submammary |
none |
| 2070 |
F/19 |
Nonsense R461X |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
Unilateral optic glioma |
| 2133 |
M/51 |
Nonsense K1517X |
N |
0 |
0 |
0 |
Y |
N |
CALs onlya |
| 2199 |
F/27 |
Frameshift c.6403insGA |
N |
0 |
0 |
0 |
Y |
N |
Mild learning difficulties/ CALs onlya |
| 2277 |
F/34 |
Frameshift c.3721-3722 ins A |
Y |
0 |
Y |
0 |
Y |
N |
none |
| 2278 |
M/39 |
Frameshift c.7892-7893delAA |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
Mild learning difficulties |
| 1663 |
M/25 |
Frameshift c.495delTGTT |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
none |
| 26445 |
F/18 |
Frameshift c.5406insT |
Y |
0 |
0 |
0 |
Y |
Extensive |
Mild learning difficulties |
| 870 |
F/18 |
Frameshift c.6219 delT |
Y |
0 |
0 |
0 |
Y |
B/L axilla/trunk |
Bilateral optic glioma |
| 2276 |
F/20 |
Frameshift c.6791insA |
Y |
0 |
0 |
0 |
Y |
B/L axilla |
none |
| 2023 | F/22 | Splice-site c.589-2 A > G | ? | 0 | 0 | 0 | Y | ? | Severe learning difficulties |
aSome of the patients were found to have more than one type of tumor.