Skip to main content

Table 3 South Florida GD1 patients: Mean DS3 scores per genotype category

From: Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

Genotype Mean DS3 score (SD) 95% CI P value (T test)
N370S/N370S (N = 48) 3.86 (2.31) 3.21-4.51 Reference
N370S/84 GG compound heterozygote (N = 4) 6.98 (1.85) 5.17-8.79 NS
N370S/L444P (N = 10) 6.82 (1.08) 6.15-7.49 0.018
N370S/unidentified (N = 5) 4.30 (2.20) 2.37-6.23 NS
N370S/V394L (N = 5) 4.80 (2.29) 2.79-6.81 NS
N370S/L444P or 84GG compound heterozygotes and (N = 14) 6.86 (1.26 5.60-8.12 0.021
N370S/Y212H (N = 2 sisters) 9.33; 4.17   
N370S/IVS2 + 1 (N = 2) 8.93; 2.33   
N370S/F216Y (N = 1) 1.83   
N370S/RecNCI1 (N = 1) 10.17   
N370S/Y135X (N = 1) 8.00   
R463C/K198 (N = 1) 5.08   
L444P/unidentified (N = 1) 2.50   
  1. Statistical comparison is for the N370S/N370S genotype versus the other genotypes identified.