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 |