Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.

Abstract

An index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor V deficiency, with 50% factor V activity. Genomic DNA was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son. but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560.

• Authors: J L Zehnder, D D Hiraki, C D Jones, N Gross, F C Grumet
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 82 Issue 3 Pg. 1097-9 (Sep 1999) ISSN: 0340-6245 [Print] GERMANY
• PMID: 10494770 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA Primers
• factor V Leiden
• Factor V

Topics

• Alleles
• Amino Acid Sequence
• Base Sequence
• Cloning, Molecular
• DNA Primers (genetics)
• Exons
• Factor V (genetics, metabolism)
• Factor V Deficiency (blood, genetics)
• Female
• Frameshift Mutation
• Heterozygote
• Homozygote
• Humans
• Male
• Molecular Sequence Data
• Polymerase Chain Reaction