Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Atherosclerosis - Tập 227 - Trang 342-348 - 2013
Stefano Bertolini1, Livia Pisciotta1, Claudio Rabacchi2, Angelo B. Cefalù3, Davide Noto3, Tommaso Fasano4, Alessio Signori5, Raffaele Fresa1, Maurizio Averna3, Sebastiano Calandra2
1Department of Internal Medicine, University of Genova, Viale Benedetto XV, no. 6, I-16132 Genova, Italy
2Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41125 Modena, Italy
3Department of Internal Medicine and Medical Specialities, University of Palermo, Italy
4Clinical Chemistry, Laboratory and Endocrinology Unit, Azienda Ospedaliera ASMN, IRCCS, Reggio Emilia, Italy
5Department of Health Sciences, Section of Biostatistics, University of Genova, Italy

Tài liệu tham khảo

Goldstein, 2001, Familial hypercholesterolemia, 2863 Soutar, 2007, Mechanisms of disease: genetic causes of familial hypercholesterolemia, Nat Clin Pract Cardiovasc Med, 4, 214, 10.1038/ncpcardio0836 Williams, 1993, Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics, Am J Cardiol, 72, 171, 10.1016/0002-9149(93)90155-6 National Collaborating Centre for Primary Care, 2008 World Health Organization Familial hypercholesterolaemia (FH). Report of a second WHO consultation. Geneva: World Health Organization/WHO/HGN/FH/CONS/99.2; 1999. Varret, 2008, Genetic heterogeneity of autosomal dominant hypercholesterolemia, Clin Genet, 73, 1, 10.1111/j.1399-0004.2007.00915.x Marduel, 2010, Molecular spectrum of autosomal dominant hypercholesterolemia in France, Hum Mutat, 31, E1811, 10.1002/humu.21348 Palacios, 2012, Molecular characterization of familial hypercholesterolemia in Spain, Atherosclerosis, 221, 137, 10.1016/j.atherosclerosis.2011.12.021 Leigh, 2008, Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database, Ann Hum Genet, 72, 485, 10.1111/j.1469-1809.2008.00436.x Usifo, 2012, Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment, Ann Hum Genet, 76, 387, 10.1111/j.1469-1809.2012.00724.x Liyanage, 2011, Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution, Crit Rev Clin Lab Sci, 48, 1, 10.3109/10408363.2011.565585 Abifadel, 2009, Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease, Hum Mutat, 30, 520, 10.1002/humu.20882 Gotto, 1984, Recommendations for treatment of hyperlipidemia in adults, Circulation, 69, 1065A Cook, 2009, Growth curves for cardio-metabolic risk factors in children and adolescents, J Pediatr, 155, e15, 10.1016/j.jpeds.2009.04.051 Haase, 2012, Identification of people with heterozygous familial hypercholesterolemia, Curr Opin Lipidol, 23, 282, 10.1097/MOL.0b013e3283556c33 Deiana, 2000, Influence of ß°-thalassemia on the phenotypic expression of heterozygous Familial Hypercholesterolemia (FH): a study of FH patients from Sardinia, Arterioscler Thromb Vasc Biol, 20, 236, 10.1161/01.ATV.20.1.236 Bertolini, 2004, Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia, Atherosclerosis, 174, 57, 10.1016/j.atherosclerosis.2003.12.037 Bertolini, 2000, Clinical Expression of Familial Hypercholesterolemia in clusters of mutations of LDL-receptor gene causing receptor-defective or receptor-negative phenotype, Arterioscler Thromb Vasc Biol, 20, e41, 10.1161/01.ATV.20.9.e41 Bertolini, 1999, Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia, Arterioscler Thromb Vasc Biol, 19, 408, 10.1161/01.ATV.19.2.408 Pisciotta, 2006, Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia, Atherosclerosis, 186, 433, 10.1016/j.atherosclerosis.2005.08.015 Rabacchi, 2009, An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia, Clin Chim Acta, 406, 75, 10.1016/j.cca.2009.05.017 Fasano, 2009, Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells, Atherosclerosis, 203, 166, 10.1016/j.atherosclerosis.2008.10.027 Hegele, 2006, Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia, Genome, 49, 1343, 10.1139/g06-147 Tosi, 2007, Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic, Atherosclerosis, 194, 102, 10.1016/j.atherosclerosis.2006.10.003 Kusters, 2011, Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes, Neth Heart J, 19, 175, 10.1007/s12471-011-0076-6 Bourbon, 2008, Familial hypercholesterolaemia in Portugal, Atherosclerosis, 196, 633, 10.1016/j.atherosclerosis.2007.07.019 Cotton, 1998, Proof of “disease causing” mutation, Hum Mutat, 12, 1, 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M Fouchier, 2005, Update of the molecular basis of familial hypercholesterolemia in The Netherlands, Hum Mutat, 26, 550, 10.1002/humu.20256 Van der Graaf, 2011, Molecular basis of autosomal dominant hypercholesterolemia. Assessment in a large cohort of hypercholesterlemic children, Circulation, 123, 1167, 10.1161/CIRCULATIONAHA.110.979450 Humphries, 2006, Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk, J Med Genet, 43, 943, 10.1136/jmg.2006.038356 Junyent, 2010, Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia, Atherosclerosis, 208, 437, 10.1016/j.atherosclerosis.2009.07.058