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Related Experiment Videos

Mutations in ABCC6 cause pseudoxanthoma elasticum.

A A Bergen1, A S Plomp, E J Schuurman

  • 1The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands. A.bergen@ioi.knaw.nl

Nature Genetics
|June 3, 2000
PubMed
Summary

Pseudoxanthoma elasticum (PXE), a heritable connective tissue disorder, is linked to mutations in the ABCC6 gene. This study identified ABCC6 gene deletions or mutations in patients with all forms of PXE.

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Area of Science:

  • Genetics
  • Dermatology
  • Ophthalmology

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting connective tissues.
  • PXE manifests with characteristic skin lesions, visual impairment, and potential cardiovascular issues.
  • Previous research localized the PXE gene to chromosome 16p13.1.

Purpose of the Study:

  • To identify the specific gene responsible for Pseudoxanthoma elasticum.
  • To investigate the genetic basis of both sporadic and inherited forms of PXE.
  • To confirm the association of ABCC6 gene mutations with PXE.

Main Methods:

  • Homozygosity mapping was performed in five PXE families.
  • Genetic analysis was conducted to detect deletions or mutations.

Related Experiment Videos

  • Seven PXE patients or families were analyzed.

    • Main Results:

    • Mutations or deletions in the ABCC6 gene were identified in all analyzed PXE cases.
    • The ABCC6 gene (formerly MRP6) is implicated in the pathogenesis of PXE.
    • This finding applies to autosomal recessive, dominant, and sporadic inheritance patterns.

    Conclusions:

    • The ABCC6 gene is the primary cause of Pseudoxanthoma elasticum.
    • Genetic defects in ABCC6 underlie all forms of PXE.
    • This discovery facilitates genetic diagnosis and counseling for PXE.