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


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Ward K., Yerebakan O., Yılmaz E., Çelebi J. T.

JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol.120, no.1, pp.96-98, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120 Issue: 1
  • Publication Date: 2003
  • Doi Number: 10.1046/j.1523-1747.2003.12020.x
  • Journal Name: JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.96-98
  • Keywords: ARS (component B), mal de Meleda, mutation, palmoplantar keratoderma, SLURP-1, KERATODERMA
  • Akdeniz University Affiliated: Yes

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.