Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR

Human Mutation
P MozasM Pocovi

Abstract

Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis. The aim of this study was to characterize the LDLR mutations in a group of 476 apparently non-related Spanish FH patients. The promoter region and the 18 exons with their flanking intron sequences of the LDLR gene were screened by PCR-SSCP analysis and DNA sequencing. In addition, we tested for the presence of the mutation p.R3500Q in the gene coding for apolipoprotein B-100 (apo B-100). We found 77 mutations previously described, and 39 novel mutations affecting the LDLR gene: 8 missense, 5 nonsense, 15 frameshift, 5 splicing, 4 in frame, one nucleotide change in the non-coding sequence of exon 1, and one silent variant. We have identified al least one of these LDLR gene mutations in 329 subjects (69%). Four patients were homozygous, 4 patients were compound heterozygous, 48 patients were found to carry two different sequence variants in the same allele and 4 patients carried three different sequence variants in the same allele. Additionally, 4 subjects were carriers of the p.R3500Q mutation in the apo B gene. All of thes...Continue Reading

Citations

Jun 19, 2013·Biochemical Genetics·Alyaa R Al-KhateebBin Alwi Zilfalil
Jun 22, 2011·Genetic Testing and Molecular Biomarkers·Khalid K AlharbiIan N M Day
Jan 11, 2012·Rheumatology·Thomas J A LehmanJoan Keutzer
Jul 18, 2008·Journal of Lipid Research·Karen L SvensonLuanne L Peters
Apr 30, 2010·Molecular Genetics and Genomics : MGG·M T TejedorM Pocovi
Dec 15, 2010·Molecular Genetics and Metabolism·Akl C FahedGeorges Nemer
Sep 11, 2010·Atherosclerosis·A M MedeirosUNKNOWN investigators of the Portuguese FH Study
Mar 26, 2009·Clinical Biochemistry·Rodrigo AlonsoPedro Mata
Sep 4, 2007·Atherosclerosis·M BourbonUNKNOWN Investigators of Portuguese FH Study
Nov 22, 2007·Clinical Genetics·M VarretC Boileau
Oct 27, 2005·Human Mutation·Sigrid W FouchierJoep C Defesche
Mar 15, 2014·Journal of Lipid Research·Ana Margarida MedeirosUNKNOWN Pediatric Investigators of the Portuguese Familial Hypercholesterolemia Study
Aug 27, 2005·Arteriosclerosis, Thrombosis, and Vascular Biology·Mireia JunyentEmilio Ros
Jun 4, 2015·European Journal of Human Genetics : EJHG·Ingrid BrænneHeribert Schunkert
Sep 25, 2014·European Journal of Human Genetics : EJHG·Amna KhamisSteve E Humphries
Sep 22, 2011·Die Naturwissenschaften·M Teresa TejedorMiguel Pocovi
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Asier Benito-VicenteMafalda Bourbon
Oct 17, 2019·Molecular Genetics & Genomic Medicine·Karen H Y WongClive R Pullinger
Nov 2, 2017·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Rafael EscateLina Badimon
Feb 20, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Rafael EscateLina Badimon
Jun 11, 2011·Critical Reviews in Clinical Laboratory Sciences·Khemanganee E LiyanageFrank M van Bockxmeer
Feb 1, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Rafael EscateLina Badimon
Oct 19, 2020·Clínica e investigación en arteriosclerosis : publicación oficial de la Sociedad Española de Arteriosclerosis·Jessica Roa GarridoJosé Francisco Díaz Fernández
Apr 18, 2021·Journal of Human Genetics·Lakshmi Lavanya ReddyTester F Ashavaid

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