• Greizy López, Luz M Bernal, Nancy Gelvez, Luisa F Gómez, Alejandra Nova, Ana I Sánchez, and Martha L Tamayo.
• Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.
• Atherosclerosis. 2018 Oct 1; 277: 434-439.

Background And AimsFamilial hypercholesterolemia (FH) is characterized by elevated serum cholesterol levels due to high low-density lipoprotein (LDL) cholesterol levels. FH is an autosomal dominant genetic disorder and one of the most common dominant hereditary diseases in the world. However, the frequency of mutations in Colombia is unknown. The purpose of this preliminary study was to identify mutations in the LDL receptor (LDLR) gene in a Colombian population with FH.MethodsThe study included 24 families with clinical diagnosis of sure/probable FH. The 18 exons of the LDLR were sequenced by Sanger method.ResultsAmong 18 variants identified, 3 were known pathogenic mutations and were identified in nine individuals in five unrelated families. Five affected individuals were heterozygous for one mutation each. They were the p.W4X in two, the p.D139G in two and the p.G396D in one. Two affected individuals were homozygous for p.G396D. The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation.ConclusionsIn total, 18 variants were identified, of which 14 correspond to known nonpathogenic variants. Three pathogenic variants were identified in the LDLR. No pathological mutations were identified in the LDLR in 79% of the study population.Copyright © 2018 Elsevier B.V. All rights reserved.

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