Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

Atherosclerosis

Volumn 166, Issue 2, 2003, Pages 395-400

  Barbagallo, C M ^a   Emmanuele, G ^b   Cefalu A B ^a   Fiore, B ^b   Noto, D ^a   Mazzarino, M C ^b   Pace, A ^a   Brogna, A ^c   Rizzo, M ^a   Corsini, A ^d   Notarbartolo, A ^a   Travali, S ^b   Averna, M R ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c GARIBALDI HOSPITAL   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

ARH gene; Autosomal recessive hypercholesterolemia; Mutation

Indexed keywords

APOLIPOPROTEIN B; IODINE 125; LOW DENSITY LIPOPROTEIN RECEPTOR; SITOSTEROL;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL CULTURE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY ATHEROSCLEROSIS; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; MALE; NORMAL VALUE; PRIORITY JOURNAL; SIBLING; SKIN BIOPSY; XANTHOMA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADULT; ANTILIPEMIC AGENTS; BASE SEQUENCE; CORONARY ANGIOGRAPHY; CORONARY STENOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RISK ASSESSMENT; RNA, MESSENGER; SIBLINGS; SICILY; TREATMENT OUTCOME;

EID: 12244279036     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(02)00379-9     Document Type: Article

References (19)

1. Zuliani G., Arca M., Signore A., et al. Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 19:(3):1999;802-809.
2. Garcia C.K., Wilund K., Arca M., et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 292:(5520):2001;1394-1398.
3. Eden E.R., Naoumova R.P., Burden J.J., McCarthy M.I., Soutar A.K. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am. J. Hum. Genet. 68:(3):2001;653-660.
4. Arca M., Zuliani G., et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet. 359:(9309):2002;841-847.
5. Al-Kateb H., Bahring S., Hoffmann K., et al. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ. Res. 90:(9):2002;951-958.
6. Corsini A., McCarthy B.J., Granata A., et al. Familial defective apo B-100, characterization of an Italian family. Eur. J. Clin. Invest. 21:(4):1991;389-397.
7. Goldstein J.L., Basu S.K., Brown M.S. Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol. 98:1983;241-260.
8. Marino G., Travali S., Reyes T., et al. Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Hum. Mutat. 13:(5):1999;412.
9. Barbagallo C.M., Averna M.R., Di Marco T., et al. Effectiveness of cascade filtration plasmapheresis in two patients affected by familial hypercholesterolemia. J. Clin. Apheresis. 10:(2):1995;96-100.
10. Havel R.J., Eder H.A., Bragdon J.H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34:1955;1345-1353.
11. Bilheimer D.W., Eisenberg S., Levy R.I. The metabolism of very low density lipoprotein proteins. I. Preliminary in vitro and in vivo observations. Biochim. Biophys. Acta. 21:(260(2)):1972;212-221.
12. Goldstein J.L., Brown M.S. 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. 25:(249(16)):1974;5153-5162.
13. Roschlau P. Enzymatische bestimmung des gesamte-cholesterins in serum. Chem. Klin. Biochem. 12:1974;226-227.
14. Wahalefeld A.W. Triglyceride determination after enzymatic hydrolysis. Bergmeyer H.U. Methods of enzymatic analysis. 4:1974;1831-1835 Academic Press, New York.
15. Lopez-Virella H.F., Stone P., Ellis J., Coltwell L.A. Cholesterol determination in the HDL separated by precipitation with polianions. J. Lipid Res. 11:1970;583-595.
16. Friedewald W.T., Levy R.I., Fredrickson D.S. Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of preparative ultracentrifuge. Clin. Chem. 18:1972;499-502.
17. Kasama T., Byun D.S., Seyama Y. Quantitative analysis of sterols in serum by high-performance liquid chromatography. Application to the biochemical diagnosis of cerebrotendinous xanthomatosis. J. Chromatogr. A. 400:1987;241-246.
18. Hansen P.S., Rudiger N., Tybjaerg-Hansen A., Faergeman O., Gregersen N. Detection of the apo B-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J. Lipid Res. 32:1991;1229-1233.
19. Pullinger C.R., Hennessy L.K., Chatterton J.E., et al. Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity. J. Clin. Invest. 95:1995;1225-1234.