Cancer Institute A national cancer institute
designated cancer center

James L. Zehnder, M.D.

Publication Details

  • Homozygous factor V splice site mutation associated with severe factor V deficiency BLOOD Schrijver, I., Koerper, M. A., Jones, C. D., Zehnder, J. L. 2002; 99 (8): 3063-3065


    We investigated a family whose proband has a severe bleeding disorder and factor V antigenic and functional levels of 8% and less than 1% of control values, respectively. Molecular analysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10. 1701G>T causes activation of a cryptic exonic splice site in exon 10, which encodes part of the factor V heavy chain (A2 domain). This leads to the deletion of 35 nucleotides and results in a frameshift with a premature stop codon at amino acid position 498. The G1701 and corresponding Gln509 are conserved in murine, bovine, and porcine factor V and in human factor VIII. Few factor V deficiency mutations have been identified as yet. Several are present in the heterozygous form in combination with factor V Leiden (Arg506Gln). This is the first reported homozygous splice site mutation in a patient with factor V deficiency.

    View details for Web of Science ID 000174866500055

    View details for PubMedID 11929802

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