title: 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.affiliation: Department of Pathology, Stanford University School of Medicine, CA 94305, USA. jzehnder@pathology.stanford.edu
authors.forename: J L
authors.initials: JL
authors.lastname: Zehnder
authors.forename: D D
authors.initials: DD
authors.lastname: Hiraki
authors.forename: C D
authors.initials: CD
authors.lastname: Jones
authors.forename: N
authors.initials: N
authors.lastname: Gross
authors.forename: F C
authors.initials: FC
authors.lastname: Grumet
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C095381:factor V Leiden; D005165:Factor V