Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome

Candido E. Rivera, Jose Villagra, Michael Riordan, Sybil Williams, Katarina J. Lindstrom, Margaret E. Rick

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

We describe a new mutation in glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome (BSS). Sequencing of GPIX revealed a homozygous (T→C) transition at nucleotide 1717 (GenBank/HUMGPIX/M80478), resulting in a Cys8 (TGT)→Arg (CGT) replacement in the mature peptide. DNA restriction enzyme analysis using BsaAI revealed that the patient was homozygous and that his parents were heterozygous for the defect. This mutation disrupts a putative disulphide bond between the Cys8 and Cys12 that would alter the secondary structure of GPIX and which probably accounts for the absence of the GPIb/IX/V complex from the platelet surface in this patient.

Original languageEnglish (US)
Pages (from-to)105-108
Number of pages4
JournalBritish journal of haematology
Volume112
Issue number1
DOIs
StatePublished - Feb 24 2001

Keywords

  • Bernard-Soulier syndrome
  • Bleeding
  • GPIX
  • Mutation
  • Thombocytopenia

ASJC Scopus subject areas

  • Hematology

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