The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 75-78

  Köblös, Gabriella ^a   Andrikovics, Hajnalka ^b   Prohászka, Zoltán ^c   Tordai, Attila ^b   Váradi, András ^a   Arányi, Tamás ^a  

^a INSTITUTE OF ENZYMOLOGY   (Hungary)

^b Hungarian National Blood Transfusion Service   (Hungary)

^c SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCC6 PROTEIN; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD DONOR; CEREBROVASCULAR ACCIDENT; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PSEUDOXANTHOMA ELASTICUM; RISK FACTOR;

ADULT; ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CODON, NONSENSE; CORONARY ARTERY DISEASE; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNGARY; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; PSEUDOXANTHOMA ELASTICUM; RISK FACTORS; STROKE;

EID: 76949097206     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0094     Document Type: Article

References (27)

1. Adams HP Jr., Adams RJ, Brott T, del Zoppo GJ, et al.; Stroke Council of the American Stroke Association (2003) Guidelines for the early management of patients with ischemic stroke: a scientific statement from the Stroke Council of the American Stroke Association. Stroke 34:1056-1083.
2. Aherrahrou Z, Doehring LC, Ehlers EM, et al. (2008) An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H=He mice. J Biol Chem 283:7608-7615.
3. Aranyi T, Ratajewski M, Bardoczy V, et al. (2005) Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6. J Biol Chem 280: 18643-18650.
4. Bergen AA (2006) Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. J Invest Dermatol 126: 704-705.
5. Bergen AA, Plomp AS, Schuurman EJ, et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-231.
6. Chassaing N, Martin L, Calvas P, et al. (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-892.
7. Fulop K, Barna L, Symmons O, et al. (2009) Clustering of diseasecausing mutations on the domain-domain interfaces of ABCC6. Biochem Biophys Res Commun 379:706-709.
8. Goodman RM, Smith EW, Paton D, et al. (1963) Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine (Baltim) 42:297-334.
9. Gorgels TG, Hu X, Scheffer GL, et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14:1763-1773.
10. Gotting C, Schulz V, Hendig D, et al. (2004) Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. Lab Invest 84:122-130.
11. Hendig D, Schulz V, Arndt M, et al. (2006) Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem 52:227-234.
12. Hendig D, Zarbock R, Szliska C, et al. (2008) The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum. Clin Biochem 41:407-412.
13. Klement JF, Matsuzaki Y, Jiang QJ, et al. (2005) Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25:8299-8310.
14. Le Saux O, Urban Z, Tschuch C, et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25:223-227.
15. Lebwohl M, Neldner K, Pope FM, et al. (1994) Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 30:103-107.
16. Li Q, Jiang Q, Pfendner E, et al. (2009) Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol 18:1-11.
17. Martin L, Chassaing N, Delaite D, et al. (2007) Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol 21:368-373.
18. Meng H, Vera I, Che N, et al. (2007) Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics. Proc Natl Acad Sci USA 104:4530-4535.
19. Pfendner EG, Uitto J, Gerard GF, Terry SF (2008) Pseudoxanthoma elasticum: genetic diagnostic markers. Expert Opin Med Diagn 2:63-79.
20. Plomp AS, Florijn RJ, Ten Brink J, et al. (2008) ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones. Mol Vis 14:118-124.
21. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97:6001-6006.
22. Ringpfeil F, McGuigan K, Fuchsel L, et al. (2006) Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol 126:782-786.
23. Struk B, Neldner KH, Rao VS, et al. (1997) Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet 6:1823-1828.
24. Symmons O, Varadi A, Aranyi T (2008) How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes. Mol Biol Evol 25:2601-2613.
25. Szilvasi A, Andrikovics H, Kalmar L, et al. (2005) Asymmetric PCR increases efficiency of melting peak analysis on the LightCycler. Clin Biochem 38:727-730.
26. Trip MD, Smulders YM, Wegman JJ, et al. (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 106:773-775.
27. Vanakker OM, Leroy BP, Coucke P, et al. (2008) Novel clinicomolecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat 29:205.