Novel TGM5 mutations in acral peeling skin syndrome

Jaap .J A. J. van der Velden (Lead / Corresponding author), Michel van Geel, Ruud G. L. Nellen, Marcel F. Jonkman, John A. McGrath, Arti Nanda, Eli Sprecher, Maurice A. M. van Steensel, W. H. Irwin Mclean, Andrew J. Cassidy

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase-5, which is important for structural integrity of the outermost epidermal layers. The majority of patients originate from Europe and carry a p.(Gly113Cys) mutation in TGM5. In this study, we report both European and non-European families carrying other mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. To confirm their pathogenicity, we performed functional analyses with a transglutaminase activity assay, determined alternative splicing by reverse-transcribed PCR analysis and used databases and in silico prediction tools.

Original languageEnglish
Pages (from-to)285-289
Number of pages5
JournalExperimental Dermatology
Volume24
Issue number4
Early online date3 Feb 2015
DOIs
Publication statusPublished - Apr 2015

Keywords

  • Acral peeling skin syndrome
  • TGM5

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