Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1688, Issue 1, 2004, Pages 61-67

  Lancellotti, Sandra ^a   Di Leo, Enza ^a   Penacchioni, Junia Y ^a   Balli, Fiorella ^a   Viola, Laura ^a   Bertolini, Stefano ^b   Calandra, Sebastiano ^a   Tarugi, Patrizia ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

"De novo" mutation; Familial hypobetalipoproteinemia; Microsomal triglyceride transfer protein; Truncated apolipoprotein B

Indexed keywords

AMINO ACID; APOLIPOPROTEIN B; ISOLEUCINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; THREONINE; VALINE;

ABETALIPOPROTEINEMIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA POLYMORPHISM; EXON; FATHER; FATTY LIVER; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC MARKER; HETEROZYGOSITY; HUMAN; HYPOBETALIPOPROTEINEMIA; MALE; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; PATERNITY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; RECESSIVE INHERITANCE; RELATIVE; SCHOOL CHILD; SYMPTOMATOLOGY;

ABETALIPOPROTEINEMIA; APOLIPOPROTEINS B; BASE SEQUENCE; CARRIER PROTEINS; CENTRIFUGATION, DENSITY GRADIENT; CHILD; DIAGNOSIS, DIFFERENTIAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; GENETIC COMPLEMENTATION TEST; HUMANS; HYPOLIPOPROTEINEMIAS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; VARIATION (GENETICS);

EID: 1642398295     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2003.11.002     Document Type: Article

References (31)

1. Kane J.P., Havel R.J. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 2001;2717-2752 McGraw Hill, New York, N.Y.
2. Tarugi P., Lonardo A., Ballarini G., Grisendi A., Pulvirenti M., Bagni A., Calandra S. Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B. Gastroenterology. 111:1996;1125-1133.
3. Tarugi P., Lonardo A., Ballarini G., Erspamer L., Tondelli E., Bertolini S., Calandra S. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apo B (APO B-54.5). J. Hepatol. 33:2000;361-370.
4. Tarugi P., Lonardo A., Gabelli C., Sala F., Ballarini G., Cortella I., Previato L., Bertolini S., Cordera R., Calandra S. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J. Lipid Res. 42:2001;1552-1561.
5. Schonfeld G. Familial hypobetalipoproteinemia: a review. J. Lipid Res. 44:2003;878-883.
6. Burnett J.R., Shan J., Miskie B.A., Whitfield A.J., Yuan J., Tran K., McKnight C.J., Hegele R.A., Yao Z. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J. Biol. Chem. 278:2003;13442-13452.
7. Pulai J.I., Neuman R.J., Groenewegen A.W., Wu J., Schonfeld G. Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apo B gene in Caucasian families. Am. J. Med. Genet. 76:1998;79-86.
8. Yuan B., Neuman R., Duan S.H., Weber J.L., Kwok P.Y., Saccone N.L., Wu J.S., Liu K.Y., Schonfeld G. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am. J. Hum. Genet. 66:2000;1699-1704.
9. Neuman R.J., Yuan B., Gerhard D.S., Liu K.Y., Yue P., Duan S., Averna M., Schonfeld G. Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. J. Lipid Res. 43:2002;407-415.
10. Hussain M.M., Shi J., Dreizen P. Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly. J. Lipid Res. 44:2003;22-32.
11. Hixson J.E., Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J. Lipid Res. 31:1990;545-548.
12. Ordovas J.M., Cupples L.A., Corella D., Otvos J.D., Osgood D., Martinez A., Lahoz C., Coltell O., Wilson P.W., Schaefer E.J. Association of cholesteryl ester transfer protein-TaqIB polymorphism with variations in lipoprotein subclasses and coronary heart disease risk. The Framingham study. Arterioscler. Thromb. Vasc. Biol. 20:2000;1323-1329.
13. Baier L.J., Sacchettini J.C., Knowler W.C., Eads J., Paolisso G., Tataranni P.A., Mochizuki H., Bennet P.H., Bogardus C., Prochazka M. An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation and insulin resistance. J. Clin. Invest. 95:1995;1281-1287.
14. Pennacchio L.A., Olivier M., Hubacek J.A., Cohen J.C., Cox D.R., Fruchart J.C., Krauss R.M., Rubin E.M. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science. 294:2001;169-173.
15. Guerra R., Wang J., Grundy S.M., Cohen J.C. A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol. Proc. Natl. Acad. Sci. U. S. A. 94:1997;4532-4537.
16. Clee S.M., Zwinderman A.H., Engert J.C., Zwarts K.Y., Molhuizen H.O., Roomp K., Jukema J.W., van Wijland M., van Dam M., Hudson T.J., Brooks-Wilson A., Genest J., Kastelein J.J., Hayden M.R. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 103:2001;1198-1205.
17. Cassanelli S., Bertolini S., Rolleri M., De Stefano F., Casarino L., Elicio N., Naselli A., Calandra S. A "de novo" point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia. Clin. Genet. 53:1998;391-395.
18. Pisciotta L., Cantafora A., De Stefano F., Langheim S., Calandra S., Bertolini S. A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. Biochim. Biophys. Acta. 1587:2002;7-11.
19. Ledmyr H., Karpe F., Lundahl B., McKinnon M., Skoglund-Andersson C., Ehrenborg E. Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. J. Lipid Res. 43:2002;51-58.
20. Rehberg E.F., Samson-Bouma M.E., Kienzle B., Blinderman L., Jamil H., Wetterau J.R., Aggerbeck L.P., Gordon D.A. A novel abetalipoproteinemia genotype. J. Biol. Chem. 271:1996;29945-29952.
21. Leren T.P., Bakken K.S., Hoel V., Hjermann I., Berg K. Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia. Hum. Genet. 102:1998;44-49.
22. Poirier O., Ricard S., Behague I., Souriaru C., Evans A.E., Arveiler D., Marques-Vidal P., Luc G., Roizes G., Cambien F. Detection of new variants in the apolipoprotein B (apo B) gene by PCR-SSCP. Human Mutat. 8:1996;282-285.
23. Saphiro M.B., Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:1987;7155-7175.
24. Cooper D.N., Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85:1990;55-74.
25. Kotze M.J., Theart L., Peeters A., Langenhoven E. A de novo duplication in the low density lipoprotein receptor gene. Human Mutat. 6:1995;181-183.
26. Koivisto U.M., Gylling H., Miettinen T.A., Kontula K. Familial moderate hypercholesterolemia caused by Asp235→Glu mutation of the LDL-receptor gene and co-occurrence of a de novo deletion of the LDL-receptor gene in the same family. Arterioscler. Thromb. Vasc. Biol. 17:1997;1392-1399.
27. Beaudet A.L., Scriver C.R., Sly W.S., Valle D. Genetics, biochemistry and molecular bases of variant human phenotypes. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 2001;3-45 McGraw Hill, New York, N.Y.
28. Segrest J.P., Jones M.K., De Loof H., Dashti N. Structure of apolipoprotein B-100 in low density lipoproteins. J. Lipid Res. 42:2001;1346-1367.
29. Pulai J.I., Zakeri H., Kwok P.Y., Kim J.H., Wu J., Schonfeld G. Donor splice mutation (665+1GT) in familial hypobetalipoproteinemia with no detectable apo B truncation. Am. J. Med. Genet. 80:1998;218-220.
30. Huang L.-S., Kayden H., Sokol R.J., Breslow J.L. Apo B gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J. Lipid Res. 32:1991;1341-1348.
31. Wu J., Kim J., Li Q., Kwok P.Y., Cole T.G., Cefalu' B., Averna M., Schonfeld G. Known mutations of apo B account for only a small minority of hypobetalipoproteinemia. J. Lipid Res. 40:1999;955-959.