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Journal of Molecular Medicine

, Volume 78, Issue 5, pp 282–286 | Cite as

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

  • Berthold Struk
  • Li Cai
  • Stéphanie Zäch
  • Wan Ji
  • Joon Chung
  • Amanda Lumsden
  • Markus Stumm
  • Marcel Huber
  • Lori Schaen
  • Chung-Ah Kim
  • Lowell A. Goldsmith
  • Denis Viljoen
  • Luis E. Figuera
  • Wayne Fuchs
  • Francis Munier
  • Raj Ramesar
  • Daniel Hohl
  • Robert Richards
  • Kenneth H. Neldner
  • Klaus Lindpaintner
Rapid communication

Abstract.

We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Here we report the identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one of the four genes located in the region of linkage, as cause of the disease. Sequence analysis in four independent consanguineous families from Switzerland, Mexico, and South Africa and in one non-consanguineous family from the United States demonstrated several different mis-sense mutations to cosegregate with the disease phenotype. These findings are consistent with the conclusion that PXE is a recessive disorder that displays allelic heterogeneity, which may explain the considerable phenotypic variance characteristic of the disorder.

Pseudoxanthoma elasticum Membrane transporter proteins ATP binding cassette proteins ABC-C6 

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Berthold Struk
    • 1
  • Li Cai
    • 1
  • Stéphanie Zäch
    • 2
  • Wan Ji
    • 1
  • Joon Chung
    • 1
  • Amanda Lumsden
    • 3
  • Markus Stumm
    • 4
  • Marcel Huber
    • 2
  • Lori Schaen
    • 5
  • Chung-Ah Kim
    • 1
  • Lowell A. Goldsmith
    • 5
  • Denis Viljoen
    • 6
  • Luis E. Figuera
    • 7
  • Wayne Fuchs
    • 8
  • Francis Munier
    • 9
  • Raj Ramesar
    • 10
  • Daniel Hohl
    • 2
  • Robert Richards
    • 3
  • Kenneth H. Neldner
    • 11
  • Klaus Lindpaintner
    • 1
  1. 1.Department of Cardiology, Children's Hospital, Cardiovascular Division, Brigham and Women's Hospital, Department of Cardiology, and Department of Medicine, Harvard Medical School, Boston, MA 021152USA
  2. 2.Department of Dermatology, University of Lausanne, 1011 LausanneSwitzerland
  3. 3.Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 71 King William Road, North Adelaide S.A. 5006Australia
  4. 4.Human Genetics Institute, Otto-von-Guericke-University, MagdeburgGermany
  5. 5.Department of Dermatology, University of Rochester, Rochester, New York 14642USA
  6. 6.South African Institute for Medical Research, JohannesburgSouth Africa
  7. 7.Divisions of Genetics and Molecular Medicine, CIBO-IMSS, University of Guadalajara Medical School, GuadalajaraJal Mexico
  8. 8.Department of Ophthalmology, Mount Sinai School of Medicine, New York, New York 10029USA
  9. 9.Department of Ophthalmology, University of Lausanne, 1011 LausanneSwitzerland
  10. 10.Department of Human Genetics, Medical School, University of Cape Town, Observatory 7925South Africa
  11. 11.Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, Texas 79430USA

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