Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia.
We studied a 2-year-old boy with a phenotype of combined hypo- and dysprothrombinaemia. Sequencing of polymerase-chain-reaction-amplified genomic DNA revealed three different mutations in heterozygosity, a G to A transition at position 7312, resulting in the replacement of arginine 271 by histidine, an A to G transition at position 20058, resulting in the replacement of histidine 562 by arginine, and a 2-bp deletion at 20062-20063, causing a frameshift and a premature stop codon in exon 14. The first two mutations are compatible with the dysprothrombinaemia phenotype, whereas the small deletion is thought to be the cause of hypoprothrombinaemia.
Akhavan
Sepideh
S
Angelo Bianchi Bonomi Hemophilia Centre and Fondazione Luigi Villa, IRCCS Maggiore Hospital, University of Milan, Italy. sakhavan@bichat.inserm.fr
Luciani
Matteo
M
Lavoretano
Silvia
S
Mannucci
Pier Mannuccio
PM
D006579:Heterozygote; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood / Q000235:genetics*; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*
D011516:Prothrombin