title: 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.
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.
authors.affiliation: Department of Clinical Chemistry, University Medical Centre, Utrecht, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: van Wijk
authors.forename: M C
authors.initials: MC
authors.lastname: Montefusco
authors.forename: S
authors.initials: S
authors.lastname: Duga
authors.forename: R
authors.initials: R
authors.lastname: Asselta
authors.forename: W
authors.initials: W
authors.lastname: van Solinge
authors.forename: M
authors.initials: M
authors.lastname: Malcovati
authors.forename: M L
authors.initials: ML
authors.lastname: Tenchini
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
mesh_terms: D000293:Adolescent; D002648:Child; D018389:Codon, Nonsense; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D012333:RNA, Messenger; C095381:factor V Leiden; D005165:Factor V