Table 2. Residual activities of selected sulfatases in MSD fibroblasts.
| ASA activitya nmol/h per mg (±SD) | ASC activitya pmol/h per mg (±SD) | Gal-6-S activitya nmol/h per mg (±SD) | Mutation | |||
|---|---|---|---|---|---|---|
| Patient No. | Disease type | % of wt | % of wt | % of wt | cDNA | Protein |
| 684 (87) | 292 (33) | 14.5 (1.0) | wt | wt | ||
| 100 | 100 | 100 | ||||
| 1 | NVS | 0 (0) | 2 (3) | 0.2 (0.4) | c.979C>T | p.R327X |
| 0 | 0.7 | 1.4 | c.IVS3+5-8del | p.A149_A173del | ||
| 2 | LIS | 23 (4) | 92 (6) | 1.2 (0.1) | c.463C>T | p.S155P |
| 3.4 | 32 | 8.3 | c.463C>T | p.S155P | ||
| 3 | LIS | 81 (2) | 63 (34) | 3.2 (0.4) | c.463C>T | p.S155P |
| 12 | 22 | 22 | c.463C>T | p.S155P | ||
| 4 | LIS | 34 (7) | 41 (12) | 0.4 (0.1) | c.463C>T | p.S155P |
| 5.0 | 14 | 2.8 | c.463C>T | p.S155P | ||
| 6 | LIS | 74 (3) | 1 (0.2) | 2.2 (0.1) | c.739G>C | p.G247R |
| 11 | 0.3 | 15 | c.739G>C | p.G247R | ||
| 7 | LIS | 16 (1) | 8 (2) | 0.2 (0.1) | c.739G>C | p.G247R |
| 2.3 | 2.7 | 1.4 | c.739G>C | p.G247R | ||
| 8 | LIS | 36 (27) | 3 (4) | 1.6 (0.4) | c.1033C>T | p.R345C |
| 5.3 | 1.0 | 11 | c.1033C>T | p.R345C | ||
| fetus | LIMb | 118 (3) | 177 (1) | 5.6 (0) | c.788G>T | p.G263V |
| 17 | 61 | 39 | c.788G>T | p.G263V | ||
Abbrevitions: ASA, arylsulfatase A; ASC, arylsulfatase C; cDNA, complementaru DNA; LIM, late infantile mild; LIS, late infantile severe; NVS, neonatal very severe.
a
The results and SD were calculated from three independent experiments using total cell lysates of MSD fibroblasts and an unaffected fibroblast cell line as a control. Relative activities (% of wt) are given in bold face.
b
Clinical data were analyzed in patients with the same mutation.