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

Atherosclerosis

Volumn 227, Issue 2, 2013, Pages 342-348

  Bertolini, Stefano ^a   Pisciotta, Livia ^a   Rabacchi, Claudio ^b   Cefalù, Angelo B ^c   Noto, Davide ^c   Fasano, Tommaso ^d   Signori, Alessio ^e   Fresa, Raffaele ^a   Averna, Maurizio ^c   Calandra, Sebastiano ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

^d S MARIA NUOVA HOSPITAL   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Apolipoprotein B; Autosomal dominant hypercholesterolemia; LDL receptor; Mutations; PCSK9

Indexed keywords

APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; CHILD; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERTENSION; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SMOKING; XANTHOMA;

EID: 84875052628     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2013.01.007     Document Type: Article

References (31)

1. Goldstein J.L., Hobbs H.H., Brown M.S. Familial hypercholesterolemia. The metabolic and molecular bases of inherited disease 2001, 2863-2913. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007, 4:214-225.
3. Williams R.R., Hunt S.C., Schumacher M.C., et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993, 72:171-176.
4. National Collaborating Centre for Primary Care Identification and management of familial hypercholesterolaemia. NICE clinical guideline 71 2008, National Institute for Health and Clinical Excellence, London.
5. World Health Organization Familial hypercholesterolaemia (FH). Report of a second WHO consultation. Geneva: World Health Organization/WHO/HGN/FH/CONS/99.2; 1999.
6. Varret M., Abifadel M., Rabès J.P., Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008, 73:1-13.
7. Marduel M., Carrié A., Sassolas A., et al. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat 2010, 31:E1811-E1824.
8. Palacios L., Grandoso L., Cuevas N., et al. Molecular characterization of familial hypercholesterolemia in Spain. Atherosclerosis 2012, 221:137-142.
9. Leigh S.E.A., Foster A.H., Whittall R.A., Hubbart C.S., Humphries S.E. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 2008, 72:485-498.
10. Usifo E., Leigh S.E., Whittall R.A., et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012, 76:387-401.
11. Liyanage K.E., Burnett J.R., Hooper A.J., van Bockxmeer F.M. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci 2011, 48:1-18.
12. Abifadel M., Rabès J.P., Devillers M., et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat 2009, 30:520-529.
13. Gotto A.M., Bierman E.L., Connor W.E., et al. Recommendations for treatment of hyperlipidemia in adults. Circulation 1984, 69:1065A-1090A.
14. Cook S., Auinger P., Huang T.T. Growth curves for cardio-metabolic risk factors in children and adolescents. J Pediatr 2009, 155:e15-16.
15. Haase A., Goldberg A.C. Identification of people with heterozygous familial hypercholesterolemia. Curr Opin Lipidol 2012, 23:282-289.
16. Deiana L., Garuti R., Pes G.M., et al. Influence of ß°-thalassemia on the phenotypic expression of heterozygous Familial Hypercholesterolemia (FH): a study of FH patients from Sardinia. Arterioscler Thromb Vasc Biol 2000, 20:236-243.
17. Bertolini S., Pisciotta L., Di Scala L., et al. Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia. Atherosclerosis 2004, 174:57-65.
18. Bertolini S., Cantafora A., Averna M., et al. Clinical Expression of Familial Hypercholesterolemia in clusters of mutations of LDL-receptor gene causing receptor-defective or receptor-negative phenotype. Arterioscler Thromb Vasc Biol 2000, 20:e41-e52.
19. Bertolini S., Cassanelli S., Garuti R., et al. Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia. Arterioscler Thromb Vasc Biol 1999, 19:408-418.
20. Pisciotta L., Oliva C.P., Cefalu A.B., et al. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. Atherosclerosis 2006, 186:433-440.
21. Rabacchi C., Wunsch A., Ghisellini M., et al. An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. Clin Chim Acta 2009, 406:75-80.
22. Fasano T., Sun X.-M., Patel D.D., Soutar A.K. Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells. Atherosclerosis 2009, 203:166-171.
23. Hegele R.A. Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia. Genome 2006, 49:1343-1350.
24. Tosi I., Toledo-Leiva P., Neuwirth C., Naoumova R.P., Soutar A.K. 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 2007, 194:102-111.
25. Kusters D.M., Huijgen R., Defesche J.C., et al. 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 2011, 19:175-182.
26. Bourbon M., Alves A.C., Medeiros A.M., Silva S., Soutar A.K., Investigators of Portuguese FH Study Familial hypercholesterolaemia in Portugal. Atherosclerosis 2008, 196:633-642.
27. Cotton R.G., Scriver C.R. Proof of " disease causing" mutation. Hum Mutat 1998, 12:1-3.
28. Fouchier S.W., Kastelein J.J.P., Defesche J.C. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 2005, 26:550-556.
29. Van der Graaf A., Avis H.J., Kusters D.M., et al. Molecular basis of autosomal dominant hypercholesterolemia. Assessment in a large cohort of hypercholesterlemic children. Circulation 2011, 123:1167-1173.
30. Humphries S.E., Whittall R.A., Hubbart C.S., Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee, et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006, 43:943-949.
31. Junyent M., Gilabert R., Jarauta E., et al. Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis 2010, 208:437-441.