Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum

Genetic Testing

Volumn 8, Issue 3, 2004, Pages 292-300

  Hu, Xiaofeng ^a   Plomp, Astrid ^a,b   Gorgels, Theo ^a   Ten Brink, Jacoline ^a   Loves, Willem ^a   Mannens, Marcel ^b   De Jong, Paulus T V M ^a,b,c   Bergen, Arthur A B ^a,b  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; DNA SEQUENCE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PSEUDOXANTHOMA ELASTICUM; SEPARATION TECHNIQUE; SOUTHERN BLOTTING;

EID: 9744268955     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2004.8.292     Document Type: Article

References (24)

1. AYLIFFE, M.A., LAWRENCE, G.J., ELLIS, J.G., et al. (1994). Heteroduplex molecules formed between allelic sequences cause non-parental RAPD bands. Nucleic Acids Res. 22, 1632-1636.
2. BACCHELLI, B., QUAGLINO, D., GHEDUZZI, D., et al. (1999). Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod. Pathol. 12, 1112-1123.
3. BERGEN, A.A.B., PLOMP, A.S., SCHUURMAN, E.J., et al. (2000). Mutations in ABCC6/MRP6 cause pseudoxanthoma elasticum. Nature Genet. 25, 228-231.
4. CAI, L., LUMSDEN, A., GUENTHER, U.P., et al. (2001). A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. J. Mol. Med. 79, 536-546.
5. GOODMAN, R.M., SMITH, E.W., PATON, D., et al. (1963). Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine 42, 297-334.
6. HAUSSER, I., and ANTON-LAMPRECHT, I. (1991). Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. Hum. Genet. 87, 693-700.
7. HU, X., PLOMP, A., WIJNHOLDS, J., et al. (2003a). ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur. J. Hum. Genet. 11, 215-224.
8. HU, X., PEEK, R., PLOMP, A., et al. (2003b). Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Invest. Ophthalmol. Vis. Sci. 44, 1824-1829.
9. ILIAS, A., URBAN, Z., SEIDL, T.L., et al. (2002). Loss of ATP dependent transport activity in pseudoxanthoma elasticum associated mutants of ABCC6/MRP6 (MRP6). J. Biol. Chem. 277, 16860-16867.
10. JANSEN, R., and LEDLEY, F.D. (1990). Disruption of phase during PCR amplification and cloning of heterozygous target sequences. Nucleic Acids Res. 18, 5153-5156.
11. LEBWOHL, M., SCHWARTZ, E., LEMLICH, G., et al. (1993). Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch. Dermatol. Res. 285, 121-126.
12. LE SAUX, O., URBAN, Z., TSCHUCH, C., et al. (2000). Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nature Genet. 25, 223-227.
13. LE SAUX, O., BECK, K., SACHSINGER, C., et al. (2001). A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69, 749-764.
14. LIN, D., GOLDSTEIN, J.A., MHATRE, A.N., LUSTIG, L.R., PFISTER, M., and LALWANI, A.K. (2001). Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum. Mutat. 18, 42-51.
15. McKUSICK, V.A. (1972). Pseudoxanthoma elasticum. In Heritable Disorders of Connective Tissue. Mosby (ed.). St. Louis, pp. 475-520.
16. NELDNER, K.H. (1988). Pseudoxanthoma elasticum. Clin. Dermatol. 6, 83-92.
17. PLOMP, A.S., HU, X., DE JONG, P.T.V.M., and BERGEN, A.A.B. (2004). Does autosomal dominant pseudoxantoma elasticum exist? Am. J. Med. Gen. 126A, 403-412.
18. PULKKINEN, L., NAKANO, A., RINGPFEIL, F., et al. (2001). Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum. Genet. 109, 356-365.
19. RINGPFEIL, F., LEBWOHL, M.G., CHRISTIANO, A.M., et al. (2000). Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc. Natl. Acad. Sci. USA 97, 6001-6006.
20. RINGPFEIL, F., NAKANO, A., UITTO, J., et al. (2001). Compound heterozygosity for a recurrent 16.50-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am. J. Hum. Genet. 68, 642-652.
21. SHERER, D.W., BERCOVITCH, L., and LEBWOHL, M. (2001). Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J. Am. Acad. Dermatol. 44, 534-537.
22. TRIP, M.D., SMULDERS, Y.M., WEGMAN, J.J., et al. (2002). A frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 106, 773-775.
23. UNDERHILL, P.A., JIN, L., ZEMANS, R., et al. (1996). A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history. Proc. Natl. Acad. Sci. USA 93, 196-200.
24. WAGNER, T., STOPPA-LYONNET, D., FLEISCHMAN, E., et al. (1999). Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62, 369-376.