Summary of patients’ GALC mutations and activity levels before and after transplantation
| Patient . | GALC activity(nmol/h/mg protein) . | GALC mutation . | ||||
|---|---|---|---|---|---|---|
| Pre-HSCT . | Post-HSCT . | Allele 1 . | Allele 2 . | |||
| DNA . | Protein . | DNA . | Protein . | |||
| Asymptomatic | ||||||
| 1 | 0.05 | 6.1 | — | — | — | — |
| 2 | 0 | 2.4 | — | — | — | — |
| 3 | 0.04 | 1.8 | — | — | — | — |
| 4 | 0.08 | 2.4 | — | — | — | — |
| 5 | 0 | 3.7 | c.349A>G | p.Met117Val | c.908C>T | p.Ser303Phe |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| Symptomatic | ||||||
| 6 | 0.01 | 4.5 | — | — | — | — |
| 7 | 0 | 3.1 | — | — | — | — |
| 8 | 0 | 2.4 | — | — | — | — |
| 9 | 0.05 | 4.1 | — | — | — | — |
| 10 | 0.13 | 4.1 | — | — | — | — |
| 11 | 0 | 2.8 | — | — | — | — |
| 12 | 0 | 0.4 | — | — | — | — |
| 13 | 0.07 | 1 | c.349A>G | p.Met117Val | c.909-10A>G | — |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| 14 | 0.06 | 1.3 | c.379C>T | p.Arg127Xaa20 | c.850G>A | p.Gly284Ser |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| 15 | 0 | 2.8 | c.674C>A | p.Ala225Glu21 | c.850G>A | p.Gly284Ser |
| — | — | c.1685T>C* | p.Ile562Thr* | |||
| 16 | 0 | 0.35 | c.916G>A | p.Ala306Thr | c.30Kb del | — |
| 17 | 0.08 | 1.3 | — | — | — | — |
| 18 | 0 | 0.32 | — | — | — | — |
| 19 | 0.094 | 1.1 | c.857G>A | p.Gly286Asp | c.1161+6532 | polyA+9kbdel |
| Patient . | GALC activity(nmol/h/mg protein) . | GALC mutation . | ||||
|---|---|---|---|---|---|---|
| Pre-HSCT . | Post-HSCT . | Allele 1 . | Allele 2 . | |||
| DNA . | Protein . | DNA . | Protein . | |||
| Asymptomatic | ||||||
| 1 | 0.05 | 6.1 | — | — | — | — |
| 2 | 0 | 2.4 | — | — | — | — |
| 3 | 0.04 | 1.8 | — | — | — | — |
| 4 | 0.08 | 2.4 | — | — | — | — |
| 5 | 0 | 3.7 | c.349A>G | p.Met117Val | c.908C>T | p.Ser303Phe |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| Symptomatic | ||||||
| 6 | 0.01 | 4.5 | — | — | — | — |
| 7 | 0 | 3.1 | — | — | — | — |
| 8 | 0 | 2.4 | — | — | — | — |
| 9 | 0.05 | 4.1 | — | — | — | — |
| 10 | 0.13 | 4.1 | — | — | — | — |
| 11 | 0 | 2.8 | — | — | — | — |
| 12 | 0 | 0.4 | — | — | — | — |
| 13 | 0.07 | 1 | c.349A>G | p.Met117Val | c.909-10A>G | — |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| 14 | 0.06 | 1.3 | c.379C>T | p.Arg127Xaa20 | c.850G>A | p.Gly284Ser |
| c.1685T>C* | p.Ile562Thr* | c.1685T>C* | p.Ile562Thr* | |||
| 15 | 0 | 2.8 | c.674C>A | p.Ala225Glu21 | c.850G>A | p.Gly284Ser |
| — | — | c.1685T>C* | p.Ile562Thr* | |||
| 16 | 0 | 0.35 | c.916G>A | p.Ala306Thr | c.30Kb del | — |
| 17 | 0.08 | 1.3 | — | — | — | — |
| 18 | 0 | 0.32 | — | — | — | — |
| 19 | 0.094 | 1.1 | c.857G>A | p.Gly286Asp | c.1161+6532 | polyA+9kbdel |
Variants are reported using Human Genome Variation Society nomenclature27 reference sequences NP_000144.2 (protein) and NM_000153.3 (cDNA nucleotide). The patient numbers align with those in supplemental Table 1.
−, no information available.
A polymorphism that has been reported to have no pathogenicity when present without another accompanying pathogenic variant.28