Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

• Published in: Human mutation Vol. 32; no. 8; pp. 868 - 872
• Main Authors: De Castro-Orós, Isabel, Pampín, Sandra, Bolado-Carrancio, Alfonso, De Cubas, Aguirre, Palacios, Lourdes, Plana, Nuria, Puzo, Jose, Martorell, Esperanza, Stef, Marianne, Masana, Luis, Civeira, Fernando, Rodríguez-Rey, Jose Carlos, Pocoví, Miguel
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2011; John Wiley & Sons, Inc
• Subjects: 5' Untranslated Regions - genetics; 5′ UTR; Base Sequence; Cell Line, Tumor; Consensus Sequence - genetics; Data processing; Electrophoretic Mobility Shift Assay; familial hypercholesterolemia; Hep G2 Cells; Hereditary diseases; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type II - genetics; LDLR; LDLR gene; Lipoprotein (low density) receptors; Molecular Sequence Data; Mutation; Mutation - genetics; promoter; Promoter Regions, Genetic - genetics; Promoters; Receptors, LDL - genetics; Regulatory sequences

Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5′ UTR. Here, we analyse the functionality of six newly identi...