Inherited thrombotic tendency in a pedigree with antithrombin La Rochelle (N405K) and factor V Leiden.
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.
Hayden
P J
PJ
Department of Haematology, St Vincent's University Hospital, Dublin, Ireland. haydenpj@indigo.ie
O'Brien
M
M
Collins
B
B
O'Farrelly
C
C
Murphy
K
K
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
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