Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda

Kimberley Morine Ward, Özlem Yerebakan, Ertan Yilmaz, Jülide Tok Çelebi

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.

Original languageEnglish
Pages (from-to)96-98
Number of pages3
JournalJournal of Investigative Dermatology
Volume120
Issue number1
DOIs
StatePublished - 2003
Externally publishedYes

Keywords

  • ARS (component B)
  • Mal de Meleda
  • Mutation
  • Palmoplantar keratoderma
  • SLURP-1

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