Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity. Issue 10 (13th August 2013)

• Record Type: Journal Article
• Authors: Alfonso, Pilar; Navascués, Joaquín; Navarro, Silvia; Medina, Pilar; Bolado‐Carrancio, Alfonso; Andreu, Vanesa; Irún, Pilar; Rodríguez‐Rey, José Carlos; Pocoví, Miguel; España, Francisco; Giraldo, Pilar
• Is Part Of: Human mutation. Volume 34:Issue 10(2013:Oct.)
• Page Start: 1396
• Page End: 1403
• Publication Date: 2013-08-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22381
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22381-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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&gt;G variants are modifying factors of GD severity. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3hnbnn48" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>