geneskin

Pseudoxanthoma Elasticum - Diagnostic Tests

Diagnostic Tests

  • Clinical assessment
  • Light microscopy of skin biopsy in affected skin (Von Kossa (calcium) and van Giesson stain (elastin)) revealing fragmentation and mineralization of the elastic fibres
  • Molecular analysis of the ABCC6 gene.

Diagnostic Tools

This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:

  1. model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
  2. a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
  3. a list of molecular genetics tools, including mutational screening procedures, oligonucleotide primer sequences, PCR amplification conditions, and other details for selected diseases. In this section, you also find the link for the gene-specific page of the Weizmann Institute of Science GeneCards website (http://www.genecards.org) which is an integrated database including information on disease relationships, SNPs, gene expression, gene function and more.
  4. a mutation database with a GENESKIN updated list of the mutations identified in the genes responsible for selected diseases. A link with the gene-specific page at the Human Gene Mutation Database maintained at the University of Wales in Cardiff (www.hgmd.org) and other databases, such as the collagen database in Leicester (www.le.ac.uk/genetics/collagen), is also available.

Model Questionnaire

The diagnostic questionnaire is too large to fit in this page, but will be made available on the website of the Center for Medical Genetics, http://medgen.ugent.be

Clinical checklist (downloadable version)

Cell Biology Tools

This information can be made available on request. Please send your request to Prof. Paul Coucke (paul.coucke@ugent.be)

Molecular Genetic Tools

Causative genes

ABCC6 Genecards Logo

For screening procedures, please refer to the following papers:

  1. 1) Wang J, Near S, Young K, Connelly PW, Hegele RA. 2001. ABCC6 gene polymorphism associated with variation in plasma lipoproteins. J Hum Genet 46;699-705.
  2. 2) Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I,Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. 2001. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma Elasticum. Am J Hum Genet 69:749-764.

For further information, please contact Prof. Paul Coucke (paul.coucke@ugent.be)

Mutation Database

Causative genes

ABCC6 HGMD Logo

For updated mutation lists, please refer to the following papers:

  • Bergen A, Plomp AS, Shuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PTVM. 2000. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-231.
  • Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. 2004. Novel ABCC6 mutations in Pseudoxanthoma Elasticum. J Invest Dermatol 122:608-613.
  • 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. Published Online First: 13 May 2005. doi: 0: jmg.2004.030171
  • Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di leo E, Quaglino D, Pasquali-Ronchetti I. 2004. ABCC6 mutations in Italian families affected by Pseudoxanthoma Elasticum (PXE). Hum Mutat 24(5):438-439.
  • Hendig D, Schulz V, Eichgrün J, Szliska C, Götting C, Kleesiek K. 2005. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. J Mol Med 83:140-147.
  • Hu X, Plomp AS, van Soest A, Wijnholds J, de Jong PTVM, Bergen AAB. 2003. Pseudoxanthoma Elasticum : a clinical, histopathological and molecular update. Surv Ophthalmol 48:424-438.
  • Le Saux O, Urban Z, Tschuck C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope MF, Richards A, Terry S, Bercovitch L, De Paepe A, Boyd CD. 2000. Mutations in a gene encoding an ABC transporter cause
    pseudoxanthoma elasticum. Nat Genet 25:223-227.
  • Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I,Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. 2001. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma Elasticum. Am J Hum Genet 69:749-764.
  • Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. 2001. Pseudoxanthoma Elasticum: Point mutations in the ABCC6 gene and a
    large deletion including also ABCC1 and MYH11. Hum Mutat 18:85.
  • 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.
  • Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. 2001. 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 68:642-652.
  • Struk B, Cai L, Zach S, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K. 2000. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 78:282-286.

For further information, please contact Prof. Paul Coucke (paul.coucke@ugent.be)