Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 56, Issue 1, 1996, Pages 75-85

  Nissen, H ^a   Hansen, A B ^a   Guldberg, P ^b   Petersen, N E ^a   Larsen, M L ^a   Haghfelt, T ^a   Kristiansen, K ^c   Horder M ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

Chain reaction; Denaturing gradient gel electrophoresis; Genetics; Mutations; Polymerase

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; BLOOD ANALYSIS; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GEL ELECTROPHORESIS; GENETIC ANALYSIS; HAPLOTYPE; HEREDITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0030051247     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/00365519609088591     Document Type: Article

References (40)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited diseases. 7th ed. New York: McGraw-Hill, 1995: 1981-2030.
2. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia. Hum Mutation 1992; 1: 445-66.
3. Koivisto UM, Turtola H, Aalto-Setälä K, et al. The familial hypercholesterolaemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest 1992; 90: 219-28.
4. Lehrman MA, Schneider WJ, Brown MS, et al. The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmatic reticulum. J Biol Chem 1987; 262: 401-10.
5. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990; 85: 1014-23.
6. Leitersdorf E, van der Westhuyzen DR, Coetzee GA, Hobbs HH. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolaerma in Afrikaners. J Clin Invest 1989; 84: 954-61.
7. Nissen H, Hansen AB, Guldberg P, et al. Genetic diagnosis with the denaturing gradient gel electrophoresis technique improves diagnostic precision in familial hypercholesterolaemia. Circulation 1995; 91: 1641-6.
8. Nissen H, Hansen AB, Guldberg P, et al. Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolaemia. Atherosclerosis 1994; 111: 209-15.
9. Top B, van der Zee A, Havekes LM, Hooft FM, Frants RR. Identification of a splice site mutation in the low density lipoprotein receptor gene by denaturant gradient gel electrophoresis. Hum Genet 1993; 91: 480-4.
10. Nissen H, Hansen AB, Jensen HK. Detection of a frequent HhaI polymorphism in intron 9 of the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis. Clin Genet 1995; 48: 221-3.
11. Lombardi P, Hoffer JVM, Top B, et al. An acceptor splice mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor. Atherosclerosis 1993; 104: 117-28.
12. Nissen H, Guldberg P, Hansen AB, Petersen NE, Hørder M. Clinically applicable mutation screening in familial hypercholesterolaemia. Hum Mutation 1995. In press.
13. Christensen NC, Hørder M. Familial hyperlipidemia. A study of 152 members of 26 families. Dan Med Bull 1970; 18: 100-4.
14. Appleyard EM. The Copenhagen City Heart Study Group: The CCHS. A book of tables with data from the first examination (1976-78) and a five year follow-up (1981-83). Scand J Soc Med 1989; 17 Suppl 41: 1-160.
15. Klausen IC, Gerdes LU, Schmidt EB, Dyerberg J, Faergeman O. Differences in apolipoprotein (a) polymorphism in West Greenland Eskimos and Caucasian Danes. Hum Genet 1992; 89: 384-8.
16. Leitersdorf E, Chakravarti A, Hobbs HH. Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet 1989; 44: 409-21.
17. Rüdiger N, Heinsvig EM, Hansen FA, Færgeman O, Bolund L, Gregersen N. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolaemia. Clin Genet 1991; 39: 451-62.
18. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha1. J Lipid Res 1990; 31: 545-8.
19. Lerman LS, Silverstein S. Computational simulation of DNA melting and its application to denaturant gradient gel electrophoresis. Meth Enzymol 1987; 155: 482-501.
20. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40 base G + C rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes. Proc Natl Acad Sci USA 1989; 86: 232-6.
21. Myers RM, Lumelsky N, Lerman LS, Maniatis T. Detection of single base substitutions in total genomic DNA. Nature 1986; 313: 495-8.
22. Soutar AK. A polymorphism in exon 2 of the human LDL-receptor gene (LDLR). Nucleic Acids Res 1992; 19: 4314.
23. Yamamoto T, Davis CG, Brown MS, et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984; 39: 27-38.
24. Tartary M, Vidaud D, Piao Y, et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993; 84: 662-9.
25. Guldberg P, Henriksen KF, Güttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 1993; 17: 141-6.
26. Ekström U, Abrahamson M, Sveger T, Lombardi P, Nilsson-Ehle P. An efficient screening procedure detecting 6 novel mutations in the LDL receptor gene in Swedish children with hypereholesterolaemia. Hum Genet 1995; 96: 147-50.
27. Lombardi P, Sijbrands EJG, van de Giesen K, et al. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995; 36: 860-7.
28. Hobbs HH, Leitersdorf E, Leffert C. Evidence for a dominant gene that suppresses hypercholesterolaemia in a family with defective LDL-receptors. J Clin Invest 1989; 84: 656-64.
29. Sass C, Giroux M-L, Ma Y, et al. Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia. Hum Genet 1995; 96: 21-6.
30. Utermann G. Lipoprotein (a). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited diseases. 7th ed. New York: McGraw-Hill, 1995: 1887-912.
31. Seed M, Hoppichler F, Reaveley D, et al. Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolaemia. N Engl J Med 1990; 322: 1494-9.
32. Wiklund O, Angelin B, Olofsson SO, Eriksson M, Fager G, Berglund L, et al. Apolipoprotein (a) and ischaemic heart disease in familial hypercholesterolaemia. Lancet 1990; 335: 1360-3.
33. Berglund L, Wiklund O, Eggertsen G, et al. Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy. J Intern Med 1993; 233: 173-8.
34. Gylling H, Kuusi T, Vanhanen H, Miettinen TA. Apolipoprotein E phenotype and cholesterol metabolism in familial hypercholesterolaemia. Atherosclerosis 1989; 80: 27-32.
35. O'Malley JP, Illingworth DR. The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolaemia. Metabolism 1990; 39: 150-4.
36. Lindahl G, Mailly F, Humphries S, Seed M. Apolipoprotein E phenotype and lipoprotein (a) in familial hypercholesterolaemia: implication for lipoprotein (a) metabolism. Clin Invest 1994; 72: 631-8.
37. Ferneres J, Sing CF, Roy M, Davignon J, Lussier Cacan S. Apolipoprotein E polymorphism and heterozygous familial hypercholesterolaemia. Sex-specific effects. Arterioscler Thromb 1994; 14: 1553-60.
38. Dallongeville J, Roy M, Leboeuf N, Xhignesse M, Davignon J, Lussier Cacan S. Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolaemia. Arterioscler Thromb 1991; 11: 272-8.
39. Koivisto PV, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb 1992; 12: 584-92.
40. Leonard JV, Whitelaw AGL, Wolff OH, Lloyd JK, Slack J. Diagnosing familial hypercholesterolaemia in children by measuring serum cholesterol. Br Med J 1977; 1: 566-8.