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DOI: 10.1055/s-0037-1614335
Familial Coagulation Factor V Deficiency Caused by a Novel 4 Base Pair Insertion in the Factor V Gene: Factor V Stanford
Publikationsverlauf
Received
24. Januar 1999
Accepted after revision
26. April 1999
Publikationsdatum:
09. Dezember 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/199903/lookinside/thumbnails/10-1055-s-0037-1614335-1.jpg)
Summary
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.
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