Table 1 ARSB genotypes and phenotypes of 12 MPS VI patients
From: Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
Pt | Age at start of ERT | Age at diagnosis (years) | Main presenting symptom at diagnosis (years) | GAG at start of ERT (μg/mg creatinine) | ARSB activity fibroblasts (nmol/h*mg) | Allele 1 DNA^ | Protein | Allele 2DNA^ | Protein | Progression | Ethnicity |
|---|---|---|---|---|---|---|---|---|---|---|---|
1. | 2.1 | 1.8 | cardiomyopathy | 941.6 | 85.7 | c.903C > G c.1151G > A* | p.N301K p.S384N* | c.903C > G c.1151G > A* | p.N301K p.S384N* | Rapid | Turkish |
2. | 6.8 | 3.4 | cardiomyopathy | 1286.6 | 84.8 | c.1142 + 2T > C | c.1142 + 2T > C | Rapid | Pakistani | ||
3. | 2.9 | 2.8 | cardiomyopathy | 554.4 | 32.3 | c.995T > G | p.V332G | c.995T > G | p.V332G | Rapid | Marrocan |
4. | 2.3 | 1.9 | macrocephalia | 739.2 | 57.6 | c.971G > T | p.G324V | c.971G > T | p.G324V | Rapid | Guinean |
5. | 8.3 | 7.8 | joint abnormalities dysmorphic features | 254.3 | 79.9 | c.454C > T | p.R152W | c.454C > T | p.R152W | Slow | Turkish |
6.α | 18.3 | 10.1 | joint abnormalities | 105.6 | 46.7 | c.454C > T | p.R152W | c.454C > T | p.R152W | Slow | Turkish |
7. α | 7.6 | 0.7 | positive sibling | 230.6 | 61.9 | c.454C > T | p.R152W | c.454C > T | p.R152W | Slow | Turkish |
8. | 10.6 | 10.2 | joint abnormalities | 192.7 | 50 | c.629A > G | p.Y210C | c.937C > G | p.P313A | Slow | Dutch |
9. | 5.9 | 5.1 | joint abnormalities dysmorphic features | 206.8 | 38 | c.629A > G | p.Y210C | c.979C > T | p.R327X | Slow | Dutch |
10. β | 7.8 | 7.4 | trigger fingers | 213.8 | 40.7 | c.629A > G | p.Y210C | c.979C > T | p.R327X | Slow | Dutch |
11. β | 6.1 | 5.8 | positive sibling | 158.4 | 32.3 | c.629A > G | p.Y210C | c.979C > T | p.R327X | Slow | Dutch |
12.# | n.a. | 2.8 | joint abnormalities | 712.8 | 57 | c.710C > A | p.A237D | c.710C > A | p.A237D | Rapid | Iranian |