Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous

Jessica A. Taylor, Davide Bondavalli, Mastura Monif, Lee Mei Yap, Ingrid Winship

Research output: Contribution to journalArticleOtherpeer-review

4 Citations (Scopus)

Abstract

Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.

Original languageEnglish
Pages (from-to)e11-e13
Number of pages3
JournalAustralasian Journal of Dermatology
Volume57
Issue number1
DOIs
Publication statusPublished - 1 Feb 2016
Externally publishedYes

Keywords

  • ARS component B
  • gene
  • genodermatosis
  • Mal de Meleda
  • palmoplantar keratosis
  • SLURP1

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