Table 2 Summary of molecular data for the MPS VII Iberian cohort
Patient | Age at diagnosis | GUSB mutation | Amino acid Change | Exon | β-glucuronidase activity at diagnosis from leukocytes or fibroblasts nmol/h/mg protein (ref. range) | GAG levels at diagnosis mg/mmol/creatinine (ref. range) |
|---|---|---|---|---|---|---|
1 | 8 years | NA | – | – | NA | 16,7 (2,2–5,7) |
2 | 12 months | c.50G > C c.1325C > T | p.W17S p.A442V | 1 8 | 3,17 (268–1323) | 50,80 (0,65–12) |
3 | 2 years | c.526C > T Homozygous | p.L176F | 3 | 0,6 (NA) | 41 (NA) |
4 | 14 months | c.1491 T > G c.1747G > A | p.F498V p.R582L | 10 11 | 2 (147–1148) | NA |
5 | 18 months | c.530C > T Homozygous | p.T177I | 3 | 1 (NA) | NA |
6 | 2 years | NA | – | – | 26.04 (268–1323) | Normala |
7 | 26 months | NA | – | – | 18 (147–1148) | NA |
8 | 5 months | c.1387 T > G Homozygous | p.L463V | 8 | 2.4 (96–233) | NA |
9 | 3 months | c.1486G > T c.1760G > C | p.A496S p.V584A | 10 11 | 1.7 (96–233) | 115 (6–22) |