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Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families

Muhammad Wajid1, Mazen Kurban, Yutaka Shimomura

  • 1Department of Dermatology, Columbia University, New York, NY, United States.

Journal of Dermatological Science
|August 21, 2009
PubMed
Abstract

Insights

This study identified three mutations in the SLURP-1 gene in patients with Mal de Meleda (MDM), a rare skin condition. These findings expand the known genetic causes of MDM.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Mal de Meleda (MDM) is an autosomal recessive palmoplantar keratoderma (PPK).
  • Clinical features include hyperkeratotic plaques, pain, pseudoainhum, and brachydactyly.
  • MDM onset is early in life with progressive severity.

Purpose of the Study:

  • To investigate mutations in the SLURP-1 gene in Pakistani patients with Mal de Meleda.
  • To identify the genetic basis of MDM in the studied cohort.

Main Methods:

  • Peripheral blood samples were collected from MDM-affected families and healthy controls.
  • All exons and exon-intron boundaries of the SLURP-1 gene were amplified and sequenced.
  • Mutation screening involved PCR amplification and direct sequencing, with HphI enzyme assay for a novel mutation.

Main Results:

  • Three SLURP-1 gene mutations were identified: one novel (c.Ivs1+1G>A) and two recurrent (p.R96X, p.G86R).
  • Screening confirmed the novel mutation was not a polymorphism.
  • In vivo transcription assays demonstrated that c.Ivs1+1G>A causes aberrant splicing.

Conclusions:

  • The identified mutations expand the known spectrum of SLURP-1 gene mutations associated with Mal de Meleda.
  • This research contributes to understanding the genetic etiology of MDM.

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