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

Research output: Contribution to journalArticle

103 Citations (Scopus)

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 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 conclusion that PXE is a recessive disorder that displays allelic heterogeneity, which may explain the considerable phenotypic variance characteristic of the disorder.

Original languageEnglish
Pages (from-to)282-286
Number of pages5
JournalJournal of Molecular Medicine
Volume78
Issue number5
DOIs
Publication statusPublished - 1 Jan 2000
Externally publishedYes

Keywords

  • ABC-C6
  • ATP binding cassette proteins
  • Membrane tranporter proteins
  • Pseudoxanthoma elasticum

ASJC Scopus subject areas

  • Molecular Medicine
  • Drug Discovery
  • Genetics(clinical)

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