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, cilt.120, sa.1, ss.96-98, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 120 Sayı: 1
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1046/j.1523-1747.2003.12020.x
  • Dergi Adı: JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.96-98
  • Anahtar Kelimeler: ARS (component B), mal de Meleda, mutation, palmoplantar keratoderma, SLURP-1, KERATODERMA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.