Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

Journal of Investigative Dermatology

Volumn 126, Issue 4, 2006, Pages 782-786

  Ringpfeil, Franziska ^a   McGuigan, Kelly ^a   Fuchsel, Lauren ^a   Kozic, Heidi ^a   Larralde, Margarita ^b   Lebwohl, Mark ^c   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b Hospital Jose Maria Ramos   (Argentina)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST; FAMILY; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RECESSIVE INHERITANCE; SKIN BIOPSY;

DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PSEUDOXANTHOMA ELASTICUM;

EID: 33645029409     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700115     Document Type: Article

References (23)

1. Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B et al. (1999) Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol 12:1112-23
2. Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-31
3. Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-92
4. Chassaing N, Martin L, Mazereeuw J, Barrie L, Nizard S, Bonafe JL et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol 122:608-13
5. Gorgels TGMF, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14:1763-73
6. Klement JF, Matsuzaki Y, Jiang WJ, Terlizzi J, Choe HY, Fujimoto N et al. (2005) Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25:8299-310
7. Kruh GD, Belinsky MG (2003) The MRP family of drug efflux pumps. Oncogene 22:7537-52
8. Larralde M, Markan PA, Peruffo L, Calb I, Magarinos G (2002) Yellowish papules on flexural areas of a child. Pediatr Dermatol 19:557-9
9. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH et al. (2001) A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69:749-64
10. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25:223-7
11. McKusick VA (1972) Heritable disorders of connective tissue. Saint Louis: Mosby
12. Neldner KH (1988) Pseudoxanthoma elasticum. Clin Dermatol 6:1-159
13. Plomp AS, Hu X, de Jong PT, Bergen AA (2004) Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet 126A:403-12
14. Pope FM (1974) Autosomal dominant pseudoxanthoma elasticum. J Med Genet 11:152-7
15. Pope FM (1975) Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 92:493-509
16. Pulkkinen L, Nakano A, Ringpfeil F, Uitto J (2001) Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum Genet 109:356-65
17. Pulkkinen L, Ringpfeil F, Uitto J (2002) Progress in heritable skin diseases: molecular bases and clinical implications. J Am Acad Dermatol 47:91-104
18. 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 97:6001-6
19. Ringpfeil F, Nakano A, Uitto J, Pulkkinen L (2001a) Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 68:642-52
20. Ringpfeil F, Pulkkinen L, Uitto J (2001b) Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol 10:221-8
21. Sherer DW, Bercovitch L, Lebwohl M (2001) Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 44:534-7
22. Uitto J, Pulkkinen L (2002) Heritable diseases affecting the elastic tissue: cutis laxa, pseudoxanthoma elasticum and related disorders. In: Principles and practice of medical genetics. (Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds), 4th ed, London: Churchill Livingstone, 4044-68
23. Uitto J, Pulkkinen L, Ringpfeil F (2001) Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med 7:13-7