title: Four novel FXI gene mutations in three factor XI- deficient patients.
abstract: Hereditary factor XI deficiency is a mild bleeding disorder, which is highly prevalent among Ashkenazi Jews, but has been reported in all populations. In Ashkenazi Jews, two factor XI gene mutations Glu 117X (type II) and Phe283Leu (type III) are particularly common. In other ethnic groups, factor XI deficiency is a rare bleeding disorder and is related to a variety of mutations throughout the factor XI gene. Three cases of quantitative factor XI deficiency in relation with four novel missense mutations are reported: a compound heterozygosity for two novel mutations (Ala 181 Val and Ala 412 Thr) with a severe factor XI deficiency and two missense mutations (His 388 Pro and Trp 407 Cys) in heterozygous patients with partial factor XI deficiency.
authors.affiliation: Laboratory of Haematology, Poissy-Saint-Germain-en-Laye Hospital, France. ederaucort@chi-poissy-st-germain.fr
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: de Raucourt
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
authors.forename: Florence
authors.initials: F
authors.lastname: Quélin
mesh_terms: D000328:Adult; D002648:Child; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D005172:Factor XI