Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

R. Van Wijk, M. C. Montefusco, S. Duga, R. Asselta, W. Van Solinge, M. Malcovati, M. L. Tenchini, P. M. Mannucci

Research output: Contribution to journalArticle

Abstract

A novel homozygous 3571C→T nonsense mutation predicting the synthesis of a truncated factor V (FV) molecule was identified in exon 13 of the human coagulation factor V gene in two unrelated Italian probands with undetectable plasma levels of FV antigen and activity. Both patients were also homozygous for the FV Leiden mutation. Reverse transcription polymerase chain reaction studies showed strongly reduced mRNA levels of the mutant FV allele and FV heavy and light chains were not measurable in the plasma of the probands and reverse transcriptase. Haplotype analysis indicated that the nonsense mutation in both families had a common founder a long time ago.

Original languageEnglish
Pages (from-to)871-874
Number of pages4
JournalBritish Journal of Haematology
Volume114
Issue number4
DOIs
Publication statusPublished - 2001

Keywords

  • Factor V deficiency
  • Factor V gene
  • mRNA degradation
  • Nonsense mutation

ASJC Scopus subject areas

  • Hematology

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