High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

Clinical Genetics

Volumn 51, Issue 5, 1997, Pages 303-308

  Descamps, Olivier ^a   Hondekijn, J C ^a   Van Acker, P ^b   Deslypere, J P ^b   Heller, F R ^a  

^a Hospital de Jolimont   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Belgium; Familial hypercholesterolemia; Human mutation; Low density lipoprotein receptor

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BELGIUM; CARDIOVASCULAR DISEASE; CHROMOSOME; COHORT ANALYSIS; ENVIRONMENTAL FACTOR; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RECEPTOR GENE; STOP CODON;

EID: 0030981143     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02478.x     Document Type: Article

References (17)

1. Duvauferrier R, Dauzat M. Echographie et Doppler: repères et mesures, 2nd edn. Montpellier: Sauramps Medical, 1985: 310.
2. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 7th edn. New York: McGraw-Hill, 1995: 1981-2030.
3. Gudnasson V, Sigurdsson G, Nissen H, Humphries S. A common mutation in the LDL receptor gene causing familial hypercholesterolemia in the Icelandic population. Hum Mutat 1997: In press.
4. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992: 1: 445-466.
5. Humphries S, King-Underwood L, Gudnasson V, Seed M, Delattre S, Clavey V, Fruchart J-C. Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolemia. J Med Genet 1993: 30: 273-279.
6. Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, Grundy SM, Friedl W, Davignon J, McCarthy BJ. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 1990: 31: 1337-1349.
7. John SWM, Weitzner G, Rozen R, Scriver CR. A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 1991: 19: 408.
8. Kontula K, Koivisto UM, Koivisto P, Turtola H. Molecular genetics of familial hypercholesterolemia: common and rare mutations of the LDL receptor gene. Ann Med 1992: 24: 363-367.
9. Kornitzer M, Bara L for the B.I.R.N.H. Study Group. Clinical and anthropometric data, blood chemistry and nutritional patterns in the Belgian population according to age and sex. Acta Cardiol 1989: 44: 101-144.
10. Kotze MJ, Peeters AV, Langehoven E, Wauters JG, VanGaal LF. Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemia. Atherosclerosis 1994: 111: 217-225.
11. Leren TP, Solberg K, Rodningen OL, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994: 111: 175-182.
12. Mamotte CDS, van Bockxmeer FM. A robust strategy for screening and confirmation of familial defective apolipoprotein B-100. Clin Chem 1993: 39: 118-121.
13. Miserez AR, Schuster H, Chiodetti N, Keller U. Polymorphism haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet 1993: 52: 808-826.
14. Miserez AR, Keller U. Difference in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995: 15: 1719-1729.
15. Myant NB. Familial defective apolipoprotein B-100: a review, including comparisons with familial hypercholesterolemia. Atherosclerosis 1993: 104: 1-18.
16. Williams RR, Hasstedt SJ, Wilson DE, Ash KO, Yanowitz FF, Reiber GE, Kuida H. Evidence that men with familial hypercholesterolemia can avoid early coronary death. JAMA 1986: 255: 219-224.
17. Yamakawa K, Yanagi H, Saku K, Sasaki J, Okafuji T, Shimakura Y, Kawai K. Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas. Hum Genet 1991: 86: 445-449.