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Low density lipoprotein receptor mutation

MedGen UID:
753722
•Concept ID:
C2919414
•
Disease or Syndrome
Synonym: LDLR (low density lipoprotein receptor) mutation
SNOMED CT: Low density lipoprotein receptor mutation (445010006); LDLR (low density lipoprotein receptor) mutation (445010006)

Professional guidelines

PubMed

Human Angiopoietin-like Protein 3/ANGPTL3 Antibodies: Adding to the Armamentarium in the Management of Dyslipidemia.
Wiggins BS
J Cardiovasc Pharmacol 2021 Nov 1;78(5):e631-e640. doi: 10.1097/FJC.0000000000001132. PMID: 34738550

Recent clinical studies

Etiology

Human Angiopoietin-like Protein 3/ANGPTL3 Antibodies: Adding to the Armamentarium in the Management of Dyslipidemia.
Wiggins BS
J Cardiovasc Pharmacol 2021 Nov 1;78(5):e631-e640. doi: 10.1097/FJC.0000000000001132. PMID: 34738550
PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.
Saavedra YG, Dufour R, Davignon J, Baass A
Arterioscler Thromb Vasc Biol 2014 Dec;34(12):2700-5. Epub 2014 Oct 2 doi: 10.1161/ATVBAHA.114.304406. PMID: 25278291
Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality.
Versmissen J, Botden IP, Huijgen R, Oosterveer DM, Defesche JC, Heil TC, Muntz A, Langendonk JG, Schinkel AF, Kastelein JJ, Sijbrands EJ
Atherosclerosis 2011 Dec;219(2):690-3. Epub 2011 Aug 31 doi: 10.1016/j.atherosclerosis.2011.08.039. PMID: 21925660
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, Galiana J, Figueras R, Diaz JL, Gomez-Enterría P, Mauri M, Piedecausa M, Irigoyen L, Aguado R, Mata P; Spanish Familial Hypercholesterolaemia Group
Atherosclerosis 2008 Oct;200(2):315-21. Epub 2008 Feb 20 doi: 10.1016/j.atherosclerosis.2007.12.024. PMID: 18243212
Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study.
Koeijvoets KC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJ, Sijbrands EJ
Atherosclerosis 2005 May;180(1):93-9. Epub 2004 Dec 19 doi: 10.1016/j.atherosclerosis.2004.10.042. PMID: 15823280

Diagnosis

Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
Ma Y, Gong Y, Garg A, Zhou H
J Clin Lipidol 2018 Jan-Feb;12(1):230-235.e6. Epub 2017 Oct 26 doi: 10.1016/j.jacl.2017.10.005. PMID: 29233637
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG, Corral P, Medeiros AM, Araujo MB, Lozada A, Bustamante J, Cerretini R, López G, Bourbon M, Schreier LE
J Clin Lipidol 2017 Mar-Apr;11(2):524-531. Epub 2017 Feb 28 doi: 10.1016/j.jacl.2017.02.007. PMID: 28502510
Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome.
Rosenson RS, Najera SD, Hegele RA
J Clin Lipidol 2017 Jan-Feb;11(1):294-296. Epub 2016 Dec 21 doi: 10.1016/j.jacl.2016.12.005. PMID: 28391899
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, Galiana J, Figueras R, Diaz JL, Gomez-Enterría P, Mauri M, Piedecausa M, Irigoyen L, Aguado R, Mata P; Spanish Familial Hypercholesterolaemia Group
Atherosclerosis 2008 Oct;200(2):315-21. Epub 2008 Feb 20 doi: 10.1016/j.atherosclerosis.2007.12.024. PMID: 18243212
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF
J Med Genet 1998 Jul;35(7):573-8. doi: 10.1136/jmg.35.7.573. PMID: 9678702Free PMC Article

Therapy

Human Angiopoietin-like Protein 3/ANGPTL3 Antibodies: Adding to the Armamentarium in the Management of Dyslipidemia.
Wiggins BS
J Cardiovasc Pharmacol 2021 Nov 1;78(5):e631-e640. doi: 10.1097/FJC.0000000000001132. PMID: 34738550
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
Ma Y, Gong Y, Garg A, Zhou H
J Clin Lipidol 2018 Jan-Feb;12(1):230-235.e6. Epub 2017 Oct 26 doi: 10.1016/j.jacl.2017.10.005. PMID: 29233637
Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.
Humphries SE, Neely RD, Whittall RA, Troutt JS, Konrad RJ, Scartezini M, Li KW, Cooper JA, Acharya J, Neil A
Clin Chem 2009 Dec;55(12):2153-61. Epub 2009 Oct 1 doi: 10.1373/clinchem.2009.129759. PMID: 19797716
Management of a patient with a null low-density lipoprotein receptor mutation: a case report.
Kolovou GD, Dedoussis GV, Anagnostopoulou KK, Hatzigeorgiou GCh, Salpea KD, Choumerianou DM, Rammos S, Mikhailidis DP, Cokkinos DV
Angiology 2006 Dec-2007 Jan;57(6):729-32. doi: 10.1177/0003319706294421. PMID: 17235114
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients.
Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, van Lennep HW, Sijbrands EJ, Kastelein JJ
J Intern Med 2004 Dec;256(6):482-90. doi: 10.1111/j.1365-2796.2004.01405.x. PMID: 15554949

Clinical prediction guides

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG, Corral P, Medeiros AM, Araujo MB, Lozada A, Bustamante J, Cerretini R, López G, Bourbon M, Schreier LE
J Clin Lipidol 2017 Mar-Apr;11(2):524-531. Epub 2017 Feb 28 doi: 10.1016/j.jacl.2017.02.007. PMID: 28502510
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.
Susan-Resiga D, Girard E, Kiss RS, Essalmani R, Hamelin J, Asselin MC, Awan Z, Butkinaree C, Fleury A, Soldera A, Dory YL, Baass A, Seidah NG
J Biol Chem 2017 Feb 3;292(5):1573-1590. Epub 2016 Dec 20 doi: 10.1074/jbc.M116.769430. PMID: 27998977Free PMC Article
LRP1 gene polymorphisms are associated with premature risk of cardiovascular disease in patients with familial hypercholesterolemia.
Aledo R, Alonso R, Mata P, Llorente-Cortés V, Padró T, Badimon L
Rev Esp Cardiol (Engl Ed) 2012 Sep;65(9):807-12. Epub 2012 Jul 20 doi: 10.1016/j.recesp.2012.03.013. PMID: 22819221
Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia.
Real JT, Chaves FJ, Martínez-Usó I, García-García AB, Ascaso JF, Carmena R
Eur Heart J 2001 Mar;22(6):465-71. doi: 10.1053/euhj.2000.2408. PMID: 11237541
Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.
Day IN, Haddad L, O'Dell SD, Day LB, Whittall RA, Humphries SE
J Med Genet 1997 Feb;34(2):111-6. doi: 10.1136/jmg.34.2.111. PMID: 9039985Free PMC Article

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