Table 1. GLA gene variants and results of biochemical testing in a population of SFN patients (n = 725).
| Patient | c.position variant | p.position variant | Class | α-Gal A (mmol/L) | Lyso-GB3 (nmol/mmol creatinine) |
|---|---|---|---|---|---|
| 1 F | c.-40G>C | - | 2 | 57.4 | NA |
| 2 F | c.-8C>G | - | 2 | 68.8 | NA |
| 3 F | c.48T>G | p.Leu16Leu | 2 | 96.7 | NA |
| 4 F | c.123C>T | p.Thr41Thr | 2 | 72.9 | NA |
| 5 F | c.352C>T | p.Arg118Cys | 4 | 59.2 | 0 |
| 6 F | c.376A>G | p.Ser126Gly | 2 | 52.6 | 0 |
| 7 F | c.801+21T>C | - | 2 | 43.2 | 0 |
| 8 F | c.937G>T | p.Asp313Tyr | 3 | 62.4 | NA |
| 9 F | c.937G>T | p.Asp313Tyr | 3 | 60.6 | NA |
| 10 M | c.937G>T | p.Asp313Tyr | 3 | 30.3 | 0 |
| 11 F | c.937G>T | p.Asp313Tyr | 3 | 51.5 | 0 |
| 12 F | c.937G>T | p.Asp313Tyr | 3 | 63.5 | 0 |
| 13 F | c.999+11_12ins11+999+16_20del5 | - | 2 | 78.9 | NA |
α-Gal A: α-galactosidase A enzyme activity, F: female, Lyso-GB3: lysosomal globotriaosylceramide, M: male, NA: not available.