Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

Journal of Lipid Research

Volumn 37, Issue 2, 1996, Pages 368-381

  Webb, Julie C ^a   Sun, Xi Ming ^a   McCarthy, Susan N ^a   Neuwirth, Clare ^a   Thompson, Gilbert R ^a   Knight, Brian L ^a   Soutar, Anne K ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Automated DNA sequencing; Genetic screening; Genotype; Heterozygous familial hypercholesterolemia; Phenotype

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; RNA ANALYSIS; UNITED KINGDOM;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; FEMALE; GENE DELETION; GREAT BRITAIN; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, LDL;

EID: 0029874084     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Goldstein, J. L., and M. S. Brown. 1995. Familial hypercholesterolemia. In The Metabolic Basis of Inherited Disease. Vol. II. 7th ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York. 1215-1250.
2. Moorjani, S., M. Roy, A. Torres, C. Betard, C. Gagne, M. Lambert, D. Brun, J. Davignon, and P. Lupien. 1993. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet. 341: 1303-1306.
3. Hobbs, H. H., D. W. Russell, M. S. Brown, and J. L. Goldstein. 1990. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu. Rev. Genet. 24: 133-170.
4. Sun, X-M., D. D. Patel, J. C. Webb, B. L. Knight, L-M. Fan, H-J. Cai, and A. K. Soutar. 1994. Familial hypercholesterolemia in China: identification of mutations in the LDL receptor gene that result in a receptor negative phenotype. Arterioscler. Thromb. 14: 85-94.
5. Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
6. King, U. L., V. Gudnason, S. Humphries, M. Seed, D. Patel, B. Knight, and A. Soutar. 1991. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK. Clin. Genet. 40: 17-28.
7. Sun, X. M., J. C. Webb, V. Gudnason, S. Humphries, M. Seed, G. R. Thompson, B. L. Knight, and A. K. Soutar. 1992. Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler. Thromb. 12: 762-770.
8. Webb, J. C., X. M. Sun, D. D. Patel, S. N. McCarthy, B. L. Knight, and A. K. Soutar. 1992. Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia. J. Lipid Res. 33: 689-698.
9. Gudnason, V., U. L. King, M. Seed, X. M. Sun, A. K. Soutar, and S. E. Humphries. 1993. Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler. Thromb. 13: 56-63.
10. Sun, X. M., D. D. Patel, D. Bhatnagar, B. L. Knight, and A. K. Soutar. 1995. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler. Thromb. Vasc. Biol. 15: 219-227.
11. Barbir, M., A. Khaghani, A. Kehely, K. C. Tan, A. Mitchell, G. R. Thompson, and M. Yacoub. 1992. Normal levels of lipoproteins including lipoprotein(a) after liver-heart transplantation in a patient with homozygous familial hypercholesterolaemia. Q. J. Med. 85: 807-812.
12. Allen, J. M., G. R. Thompson, N. B. Myant, R. Steiner, and C. M. Oakley. 1980. Cardiovascular complications of homozygous familial hypercholesterolaemia. Br. Heart J. 44: 361-368.
13. Hendry, W. G., and M. Seed. 1985. Homozygous familial hypercholesterolaemia with supravalvar aortic stenosis treated by surgery. J. A. Soc. Med. 78: 334-335.
14. Kitano, Y., and G. R. Thompson. 1993. Role of LDL apheresis in the management of hypercholesterolaemia. Transfus. Sci. 14: 269-280.
15. West, R., P. Gibson, and J. Lloyd. 1985. Treatment of homozygous familial hypercholesterolaemia: an informative sibship. Br. Med. J. Clin. Res. Ed. 291: 1079-1080.
16. Feher, M. D., J. C. Webb, D. D. Patel, A. F. Lant, P. D. Mayne, B. L. Knight, and A. K. Soutar. 1993. Cholesterollowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia. Atherosclerosis. 103: 171-180.
17. Scientific Steering Committee on behalf of the Simon Broom Register Group, 1991. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Br. Med. J. 303: 893-896.
18. Tybjaerg-Hansen, A., J. Gallagher, J. Vincent, R. Houlston, P. Talmud, A. M. Dunning, M. Seed, A. Hamsten, S. E. Humphries, and N. B. Myant. 1990. Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases. Atherosclerosis. 80: 235-242.
19. Maniatis, T. 1989. Analysis of genomic DNA by Southern hybridization. In Molecular Cloning: A Laboratory Manual. 2nd ed. J. Sambrook, E. F. Fritsch, and T. Maniatis, editors. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY. 9.31-9.57.
20. Soutar, A. K., B. L. Knight, and D. D. Patel. 1989. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc. Natl. Acad. Sci. USA. 86: 4166-4170.
21. Goldstein, J. L., and M. S. Brown. 1974. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J. Biol. Chem. 249: 5153-5162.
22. Solberg, K., O. K. Rodningen, S. Tonstad, L. Ose, and T. P. Leren. 1994. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene. Scand. J. Clin. Lab. Invest. 54: 605-609.
23. Esser, V., L. E. Limbird, M. S. Brown, J. L. Goldstein, and D. W. Russell. 1988. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J. Biol. Chem. 263: 13282-13290.
24. Thompson, G. R., J. P. Miller, and J. L. Breslow. 1985. Improved survival of patients with homozygous familial hypercholesterolaemia treated by plasma exchange. Br. Med. J. 291: 1671-1673.
25. Hoeg, J. M., I. M. Feuerstein, and E. E. Tucker. 1991. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia. Arterioscler. Thromb. 14: 1066-1074.
26. Sprecher, D. L., J. M. Hoeg, E. J. Schaefer, L. A. Zech, R. E. Gregg, E. Lakatos, and H. B. Brewer, Jr. 1985. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism. 34: 294-299.
27. Sudhof, T. C., J. L. Goldstein, M. S. Brown, and D. W. Russell. 1985. The LDL receptor gene: a mosaic of exons shared with different proteins. Science. 228: 815-822.
28. Slimane, M. N., H. Pousse, F. Maatoug, M. Hammami, and M. H. Ben Farhat. 1993. Phenotypic expression of familial hypercholesterolemia in central and southern Tunisia. Atherosclerosis. 104: 153-158.
29. Hobbs, H. H., E. Leitersdorf, C. C. Leffert, D. R. Cryer, M. S. Brown, and J. L. Goldstein. 1989. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J. Clin. Invest. 84: 656-664.
30. Sun, X-M., C. Neuwirth, D. P. Wade, B. L. Knight, and A. K. Soutar. 1995. A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL) receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia. Hum. Mol. Genet. 4: 2125-2129.
31. Sun, X-M., C. Neuwirth, D. D. Patel, B. L. Knight, and A. K. Soutar. 1995. Phenotypic variation and its correlation with mutations in the low density lipoprotein receptor gene in familial hypercholesteroiaemia. Z. Gastroenterol. Suppl 3. In press.
32. Gudnason, V., D. P. R. Muller, J. K. Lloyd, and S. E. Humphries. 1995. Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia (FH). Arch. Dis. Child. 73: 538-540.
33. Whittall, R., V. Gudnason, G. P. Weavind, L. B. Day, S. E. Humphries, and I. N. M. Day. 1995. Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene. J. Med. Genet 32:509-515.
34. Leitersdorf, E., E. J. Tobin, J. Davignon, and H. H. Hobbs. 1990. Common low-density lipoprotein receptor mutations in the French Canadian population. J. Clin. Invest. 85: 1014-1023.
35. Meiner, V., D. Landsberger, N. Berkman, A. Reshef, P. Segal, H. C. Seftel, D. van der Westhuyzen, M. S. Jeenah, G. A. Coetzee, and E. Leitersdorf. 1991. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am. J. Hum. Genet. 49: 443-449.
36. Leitersdorf, E., D. van der Westhuyzen, G. A. Coetzee, and H. H. Hobbs. 1989. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J. Clin. Invest. 84:954-961.