title: Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
abstract: Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity. However, many cases of dominant disease transmission have been recently described. This disorder is rare in the general population, whereas it is commonly found in individuals of Ashkenazi Jewish ancestry. This study reports the molecular genetic analysis of FXI deficiencies in 11 unrelated families of different origin. Five novel mutations have been identified. Severe FXI deficiency of two unrelated patients resulted from two novel mutations: one deletion (960-961delGT) in exon 9 predicting a frameshift, and a Ser-4Leu mutation located in the signal peptide. In addition, three novel missense mutations associated with partial FXI deficiency have been identified: Cys122Tyr, Glu297Lys and Glu579Lys.
authors.affiliation: Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Raymond Poincaré, Garches, France. Florence.quelin@rpc.ap-hop-paris.fr
authors.forename: Florence
authors.initials: F
authors.lastname: Quélin
authors.forename: Florence
authors.initials: F
authors.lastname: Mathonnet
authors.forename: Catherine
authors.initials: C
authors.lastname: Potentini-Esnault
authors.forename: Nawel
authors.initials: N
authors.lastname: Trigui
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Peynet
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bastenaire
authors.forename: Laurent
authors.initials: L
authors.lastname: Guillon
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Bigel
authors.forename: Annick
authors.initials: A
authors.lastname: Sauger
authors.forename: Claudine
authors.initials: C
authors.lastname: Mazurier
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D011110:Polymorphism, Genetic
chemical_list: D005172:Factor XI