Pathogenicity assessment of LDLR variants in patients with Familial Hypercholes...

• Author(s): Medeiros, A.M. ; Alves, A.C. ; Etxebarria, A. ; Martin, C. ; Bourbon, M.
• Date: 2013
• Persistent ID: http://hdl.handle.net/10400.18/1636
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Cardio e Cérebro-vasculares
• Document Type: Conference Object
• Language: English

Description

Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pathogenicity of five missense LDLR variants by in vitro functional assays and 3 of them severely impaired receptor function. Here we present a novel functional characterization of five LDLR variants (p.Gly76Trp, p.Ala431Thr, p.Gly478Arg, p.Cys698Phe, c.-13A>G) found in Portuguese FH patients, two of them (p.Ala431Thr, p.Gly478Arg) previously described as pathogenic and used as control.