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Related Experiment Videos

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

J Fischer1, B Bouadjar, R Heilig

  • 1Centre National de Génotypage, 91057 Evry, France. fischer@cng.fr

Human Molecular Genetics
|April 4, 2001
PubMed
Summary

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Mal de Meleda (MDM), a rare skin disorder causing palmoplantar keratoderma, is linked to mutations in the SLURP-1 gene. This discovery identifies a secreted protein

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Mal de Meleda (MDM) is a rare autosomal recessive skin disorder.
  • Characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.

Purpose of the Study:

  • To refine the genetic interval for MDM on chromosome 8qter.
  • To identify the specific gene and mutations responsible for MDM.

Main Methods:

  • Genetic linkage analysis to refine the MDM locus.
  • Mutation screening of candidate genes within the refined interval.
  • Analysis of affected individuals from Algerian and Croatian families.

Main Results:

  • The MDM locus was refined to chromosome 8qter.

Related Experiment Videos

  • Mutations in the ARS (component B) gene, encoding secreted Ly-6/uPAR related protein 1 (SLURP-1), were identified in affected individuals.
  • Three distinct homozygous mutations (deletion, nonsense, splice site) were found in 19 families, suggesting founder effects and shared haplotypes between Algerian and Croatian populations.

    • Conclusions:

    • Mutations in the SLURP-1 gene are causative for Mal de Meleda.
    • This finding implicates a secreted protein, SLURP-1, in the pathogenesis of palmoplantar keratoderma for the first time.
    • The study highlights the role of the Ly-6/uPAR superfamily in skin disorders.