Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity. Issue 10 (13th August 2013) - Alfonso, Pilar
Abstract We examined glucosylceramide synthase gene (UGCG) polymorphisms and their correlation with Gaucher disease (GD) severity to explain the variability. Heterozygous [N370S]+[L444P] patients with c.[‐232_‐241ins10 (+) 98++++50G] haplotype had a significantly lower disease severity scoring system (DS3) score in relation to patients carrying only one of these polymorphisms. Luciferase reporter assays showed that [c.‐232_‐241ins10;98+50A], [c.‐232nonins;98+50G] and [c.‐232_‐241ins10;98+50G] haplotypes significantly reduced promoter activity. In conclusion, the c.‐232_‐241ins10 and c.98+50A>G variants are modifying factors of GD severity.