title: Inherited thrombotic tendency in a pedigree with antithrombin La Rochelle (N405K) and factor V Leiden.
abstract: An Irish pedigree with a strong thrombotic tendency, due to the novel association of antithrombin La Rochelle (N405K) and factor V Leiden is described. Thromboses occurred at a median age of 16 years in four family members, carrying both mutant alleles. Molecular diagnosis was facilitated by the creation of an additional restriction enzyme site (Mnl1) in exon 6 of the antithrombin gene. Both the genes for antithrombin and factor V are located at chromosome 1q23. The molecular data and phenotypic behaviour in this family are strongly suggestive of allelic co-segregation of the mutant alleles.
authors.affiliation: Department of Haematology, St Vincent's University Hospital, Dublin, Ireland. haydenpj@indigo.ie
authors.forename: P J
authors.initials: PJ
authors.lastname: Hayden
authors.forename: M
authors.initials: M
authors.lastname: O'Brien
authors.forename: B
authors.initials: B
authors.lastname: Collins
authors.forename: C
authors.initials: C
authors.lastname: O'Farrelly
authors.forename: K
authors.initials: K
authors.lastname: Murphy
mesh_terms: D000293:Adolescent; D058833:Antithrombin Proteins; D000991:Antithrombins / Q000235:genetics*; D020090:Chromosome Segregation; D002878:Chromosomes, Human, Pair 1; D015252:Deoxyribonucleases, Type II Site-Specific; D005165:Factor V / Q000235:genetics*; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007494:Ireland; D025202:Molecular Diagnostic Techniques; D020125:Mutation, Missense; D010375:Pedigree; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics
chemical_list: D058833:Antithrombin Proteins; D000991:Antithrombins; C483427:antithrombin La Rochelle; C095381:factor V Leiden; D005165:Factor V; C052155:endodeoxyribonuclease MnlI; D015252:Deoxyribonucleases, Type II Site-Specific