Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia

Metabolism: Clinical and Experimental

Volumn 56, Issue 5, 2007, Pages 636-640

  Chen, Kang ^a   Mu, Yi ming ^a   Wang, Bao an ^a   Guo, Qing hua ^a   Lu, Zhao hui ^a   Dou, Jing tao ^a   Lu, Ju ming ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; GLYCINE; LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEOTIDE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; CHOLESTEROL BLOOD LEVEL; CODON; DNA DETERMINATION; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOTE; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD;

ADULT; BASE SEQUENCE; CHILD; CHINA; CHOLESTEROL; DNA; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEIN(A); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; TRIGLYCERIDES;

EID: 34147163316     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2006.12.011     Document Type: Article

References (19)

1. Chaer R.A., Billeh R., and Massad M.G. Genetics and gene manipulation therapy of premature coronary artery disease. Cardiology 101 (2004) 122-130
2. Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2002), McGraw Hill, New York [Chapter 120]
3. Williams R.R., Hunt S.C., and Schumacher M.C. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 72 (1993) 171-176
4. Poncz M., Solowiejezyk D., Harpel B., Mory Y., Schwartz E., and Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin gene. Hemoglobin 6 (1982) 27-36
5. Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle I. (Eds). The metabolic basis of inherited disease. 8th ed (2001), McGraw-Hill, New York 2863-2913
6. Abifadel M., Varret M., Rabes J.P., and Allard D. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34 (2003) 154-156
7. Seidah N.G., Benjannet S., Wickham L., Marcinkiewicz J., Jasmin S.B., Stifani S., et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci U S A 100 (2003) 928-933
8. Whitfield A.J., Barrett P.H., Van Bockxmeer F.M., and Burnett J.R. Lipid disorders and mutations in the APOB Gene. Clin Chem 50 (2004) 1725-1732
9. Pimstone S.N., Defesche J.C., Clee S.M., Bakker H.D., Hayden M.R., and Kastelein J.J. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 17 (1997) 826-833
10. Wilund K.R., Yi M., Campagna F., Arca M., Zuliani G., Fellin R., et al. Molecular mechanisms of autosomal recessive hypercholesterolemia. Hum Mol Genet 11 (2002) 3019-3030
11. Pullinger C.R., Kane J.P., and Malloy M.J. Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders. Expert Rev Cardiovasc Ther 1 (2003) 107-119
12. Berge K.E. Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. Ann Med 35 (2003) 502-511
13. Innerarity T.L., Weisgraber K.H., Arnold K.S., Mahley R.W., Krauss R.M., and Vega G.L. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A 84 (1987) 6919-6923
14. Pullinger C.R., Hennessy L.K., Chatterton J.E., Liu W., Love J.A., and Mendel C.M. Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL-receptor binding activity. J Clin Invest 95 (1995) 1225-1234
15. Ludovic V., Marianne A., Delphine A., et al. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 20 (2002) 81-87
16. Health K.E., Gaban M., Whettall R.A., et al. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolemia: update, new features and mutation analysis. Atherosclerosis 154 (2001) 243-246
17. Sun X.M., Webb J.C., Gudnason V., et al. Characterization of deletions in the LDL receptor in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler Thromb 12 (1992) 762-770
18. Moorjani S., Roy M., Gagne C., et al. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis 9 (1989) 211-216
19. Seftel H.C., Baker S.G., Sandler M.P., et al. A host of hypercholesterolemia homozygotes in South Africa. BMJ 281 (1980) 633-636