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Blood, 1 April 2002, Vol. 99, No. 7, pp. 2448-2454
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
Factor XI deficiency in French Basques is caused predominantly by
an ancestral Cys38Arg mutation in the factor XI gene
Ariella Zivelin,
Frederic Bauduer,
Louis Ducout,
Hava Peretz,
Nurit Rosenberg,
Rivka Yatuv, and
Uri Seligsohn
From the Institute of Thrombosis and Hemostasis, the
Chaim Sheba Medical Center, Tel-Hashomer, Israel, and the Department of
Clinical Hematology, Centre Hospitalier de la Cote Basque, Bayonne,
France.
Inherited factor XI deficiency is an injury-related bleeding
disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation
in exon 9 (type III), predominate. Recently, a cluster of 39 factor
XI-deficient patients was described in the Basque population of
Southwestern France. In this study, we determined the molecular
basis of factor XI deficiency in 16 patients belonging to 12 unrelated
families of French Basque origin. In 8 families, a nucleotide
209T>C transition in exon 3 was detected that predicts a
Cys38Arg substitution. Four additional novel mutations in the factor XI gene, Cys237Tyr, Tyr493His, codon 285delG, and
IVS6 + 3A>G, were identified in 4 families. Expression studies
showed that Cys38Arg and Cys237Tyr factor XI were produced in
transfected baby hamster kidney cells, but their secretion was
impaired. Cells transfected with Tyr493His contained reduced amounts of
factor XI and displayed decreased secretion. A survey of 206 French
Basque controls for Cys38Arg revealed that the prevalence of the mutant allele was 0.005. Haplotype analysis based on the study of 10 intragenic polymorphisms was consistent with a common ancestry (a
founder effect) for the Cys38Arg mutation.
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