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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
Author(s) -
Van Wijk Richard,
Montefusco Maria Claudia,
Duga Stefano,
Asselta Rosanna,
Van Solinge Wouter,
Malcovati Massimo,
Tenchini Maria Luisa,
Mannucci Pier Mannuccio
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03016.x
Subject(s) - nonsense mutation , exon , mutation , proband , genetics , mutant , microbiology and biotechnology , biology , haplotype , factor v , reverse transcriptase , allele , gene , polymerase chain reaction , missense mutation , medicine , thrombosis
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.