Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura

Z. Tao, K. Anthony, Y. Peng, H. Choi, L. Nolasco, Lawrence Rice, J. L. Moake, Jing Fei Dong

Research output: Contribution to journalArticle

54 Scopus citations

Abstract

Background: Thrombotic thrombocytopenic purpura (TTP) is associated with congenital and acquired deficiency of ADAMTS-13, a metalloprotease that cleaves von Willebrand factor (VWF) and reduces its adhesive activity. Mutations throughout the ADAMTS13 gene have been identified in congenital TTP patients, most of whom have initial episodes during infancy or in early childhood. Patients and methods: We report the case of an adult male who was diagnosed with idiopathic thrombocytopenic purpura at age 34, and with TTP 14 years later. The patient was compound heterozygous for an 18 bp in-frame deletion (C365del) in the disintegrin domain and a point mutation of R1060W in the seventh thrombospondin domain of the ADAMTS-13 gene. Conclusions: In vitro studies found that C365del and R1060W severely impair ADAMTS-13 synthesis in transfected Hela cells, whereas the deletion mutant also failed to cleave VWF under static and flow conditions.

Original languageEnglish (US)
Pages (from-to)1931-1935
Number of pages5
JournalJournal of Thrombosis and Haemostasis
Volume4
Issue number9
DOIs
StatePublished - Sep 2006

Keywords

  • ADAMTS-13
  • Congenital TTP
  • Gene mutations
  • ITP

ASJC Scopus subject areas

  • Medicine(all)

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