Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco

Clinica Chimica Acta

Volumn 373, Issue 1-2, 2006, Pages 62-69

  Chater, R ^a,b   Ait Chihab K ^a,b   Rabes J P ^c,d   Varret, M ^c   Chabraoui, L ^e   El Jahiri, Y ^f   Adlouni, A ^b   Boileau, C ^c,d   Kettani, A ^b   El Messal, M ^a  

^a FACULTÉ DES SCIENCES AIN CHOCK   (Morocco)

^b FACULTÉ DES SCIENCES BEN M SIK   (Morocco)

^c INSERM   (France)

^d LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^e Hopital d'Enfants   (Morocco)

^f Hopital Militaire Avicenne   (Morocco)

Author keywords

APOB; Familial hypercholesterolemia; Genetic heterogeneity; LDLR; Moroccan families; PCSK9

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MOROCCO; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RELATIVE; SCHOOL CHILD; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 33747880167     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.05.007     Document Type: Article

References (26)

1. 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 basis of inherited diseases. 7th ed. (1995), McGraw-Hill, New York 1981-2030
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 I. (Eds). The metabolic basis of inherited disease, 2001. 8th ed. (2001), McGraw-Hill, New York 2863-2913
3. Innerarity T.L., Weisgraber K.H., Arnold K.S., Mahley R.W., Krauss R.M., Vega G.L., et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A 84 (1987) 6919-6923
4. Abifadel M., Varret M., Rabes J.P., Allard D., Ouguerram K., Devillers M., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34 (2003) 154-156
5. Damgaard D., Jensen J.M., Larsen M.L., Soerensen V.R., Jensen H.K., Gregersen N., et al. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes. Atherosclerosis 177 (2004) 415-422
6. Villeger L., Abifadel M., Allard D., Rabes J.P., Thiart R., Kotze M.J., et al. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 20 (2002) 81-87
7. El Messal M., Ait Chihab K., Chater R., Vallve J.C., Bennis F., Hafidi A., et al. Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet 48 (2003) 199-203
8. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries E., and Neil A.W. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolemia. BMJ 324 (2002) 1303-1308
9. Williams R.R., Hunt S.C., Schumacher M.C., Hegele R.A., Leppert M.F., Ludwig E.H., et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 72 (1993) 171-176
10. Friedewald W.T., Levy R.I., and Fredrickson D.S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 18 (1972) 499-502
11. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 16 (1988) 1215
12. Amasino R.M. Acceleration of nucleic acid hybridization rate by polyethylene glycol. Anal Biochem 152 (1986) 304-307
13. Rabès J.P., Varret M., Saint-Jore B., Erlich D., Jondeau G., Krempf M., et al. Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg35003Gln and Arg35313Cys mutations in a French population. Hum Mutat 10 (1997) 160-163
14. Allard D., Amsellem S., Abifadel M., Trillard M., Devillers M., Luc G., et al. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat 26 (2005) 497
15. Jensen H.K., Jensen L.G., Meinertz H., Hansen P.S., Gregersen N., and Faergeman O. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis 146 (1999) 337-344
16. Maruyama T., Yamashita S., Matsuzawa Y., Bujo H., Takahashi K., Saito Y., et al. Mutations in Japanese subjects with primary hyperlipidemia-results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996. J Atheroscler Thromb 11 (2004) 131-145
17. Jeon H., Meng W., Takagi J., Eck M.J., Springer T.A., and Blacklow S.C. Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair. Nat Struct Biol 8 (2001) 499-504
18. Hobbs H.H., Brown M.S., and Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1 (1992) 445-466
19. Krawczak M., Reiss J., and Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90 (1992) 41-54
20. Liguori R., Bianco A.M., Argiriou A., Paucillo P., Giannino A., Rubba P., et al. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy. Hum Mutat 17 (2001) 433
21. Bertolini S., Cantafora A., Averna M., Cortese C., Motti C., Martini S., et al. Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Arterioscler Thromb Vasc Biol 20 (2000) E41-E52
22. Bertolini S., Pisciotta L., Di Scala L., Langheim S., Bellocchio A., Masturzo P., et al. Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia. Atherosclerosis 174 (2004) 57-65
23. Jeon H., and Blacklow S.C. Structure and physiologic function of the low-density lipoprotein receptor. Annu Rev Biochem 74 (2005) 535-562
24. Kotze M.J., Langenhoven E., Warnich L., Marx M.P., and Retiel A.E. Molecular characterization of a low-frequency mutation in exon 8 of human low-density lipoprotein receptor gene. S Afr Med J 76 (1989) 402-405
25. Weiss N., Binder G., and Keller C. Heterozygosity for the missense mutation Ala370→Thr in exon 8 of the low density lipoprotein receptor gene does not cause hypercholesterolemia. Eur J Med Res 3 (1998) 20-24
26. Yamamoto T., Davis C.G., Brown M.S., Scheider W.J., Casey M.L., Goldstein J.L., et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39 (1984) 27-38