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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
  1. Pt patient; α, β siblings; GAG glycosaminoglycans; ARSB Arylsulfatase B; ARSB activity, normal range 379–980 nmol/mg/hr; ^NCBI Reference sequence: NM_000046; * S384N has previously been described as a polymorphic change; novel mutations are marked in bold; #Pt 12 did not receive ERT in our hospital and is therefore only included in the genotype-phenotype section.