title: Factor XI deficiency: two novel mutations in asymptomatic Italian patients.
abstract: Factor XI (FXI) deficiency is a rare bleeding disorder, resulting in a wide range of bleeding manifestations, from asymptomatic bleeding to injury-related bleeding. To identify mutations in FXI-deficient patients and to establish a possible relationship between clinical phenotype and genotype, we studied two patients from Southern Italy with FXI deficiency. They were identified by presurgical or routine laboratory screening. None of them showed bleeding. Three different mutations were detected (Glu117Stop, Cys118Arg and Trp497Gly); two of them were novel (Cys118Arg and Trp497Gly). One patient (with severe FXI levels) showed a compound heterozygosity (Glu117Stop with Cys118Arg). Two novel missense mutations were highly conserved among different species. In our patients, bleeding tendency did not appear to be correlated with FXI levels or with a single mutation in heterozygosis. On the other hand, the compound heterozygosis might explain low FXI levels, but it is not associated with bleeding. Our data confirm that a severe FXI deficiency is not necessarily associated with bleeding.
authors.affiliation: Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, S Giovanni Rotondo, FG, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Tomaiuolo
authors.forename: G
authors.initials: G
authors.lastname: Favuzzi
authors.forename: F
authors.initials: F
authors.lastname: Cappucci
authors.forename: D
authors.initials: D
authors.lastname: Pisanelli
authors.forename: G L
authors.initials: GL
authors.lastname: Tiscia
authors.forename: P
authors.initials: P
authors.lastname: Musto
authors.forename: F A
authors.initials: FA
authors.lastname: Scaraggi
authors.forename: R I
authors.initials: RI
authors.lastname: Cincione
authors.forename: M
authors.initials: M
authors.lastname: Margaglione
authors.forename: E
authors.initials: E
authors.lastname: Grandone
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005172:Factor XI / Q000032:analysis; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D044465:White People / Q000235:genetics
chemical_list: D005172:Factor XI