Table 2.
Characterization of patients with genetic findings.
| ID | Sex | Age | Gene | Genetic variant | Pain distribution | Main pain character | Max. pain intensity (NRS) |
|---|---|---|---|---|---|---|---|
| 1 | M | 32 | SCN9 | c.4942G>A, p.(Ala1648Thr) | Feet | Burning | 8 |
| 2 | M | 31 | SCN9 | c.3911T>C, p.(Ile1304Thr) | Generalized | Burning | 6 |
| 3 | F | 58 | SCN10A | c.1094C>A, p.Thr265Asn | Generalized | Burning | 10 |
| 4 | M | 45 | SCN10A | c.3417G>C, p.(Trp1139Cys) | Generalized | Burning | 7 |
| 5 | F | 38 | SCN10A | c.5216_5217delinsTT, p.(Asp1739Val) | Generalized | Burning | 7 |
| 6 | M | 52 | SCN11A | c.603T>G, p.(Ile201Met) | Generalized | Burning | 4 |
| 7 | M | 70 | SCN11A | c.5063C>T, p.(Ala1688Val) | Generalized | Burning | 10 |
| 8 | F | 50 | SCN11A | c.1043C>A, p.(Ser348Tyr) | Feet | Burning | 8 |
| 9 | F | 46 | NGF | c.608C>T, p.(Thr23Met) | Generalized | Burning | 10 |
| 10 | M | 45 | TRPA1 | c.1678C>G, p.(His560Asp) | Generalized | Burning | 10 |
| 11 | M | 51 | TRPM3 | c.T4337T>C, p.(Ile1446Thr) | Generalized | Burning | 9 |
| 12 | F | 53 | TRPV3 | c.A958G, p.(Met320Val) | Feet+legs | Burning | 5 |
| 13 | M | 49 | FBLN5 | c.212G>A, p.(Arg71Gln) | Generalized | Burning | 8 |
| 14 | F | 50 | SPTLC1 | c.250A>G, p.(Ile84Val) | Generalized | Burning | 9 |
F, female; FBLN5, fibulin-5; M, male; NGF, nerve growth factor; NRS, numeric rating scale; SCN, voltage gated sodium channel; SPTLC1, serine palmitoyltransferase long chain base subunit 1; TRPA1/TRPM3/TRPV3, transient receptor potential ion channel sub-families.