title: A novel mutation that leads to a congenital factor XI deficiency in a Japanese family.
abstract: We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The nucleotide sequences of the FXI gene of this patient were determined by a direct sequence method established in this study. A novel nonsense mutation (CAA; Gly263 --> TAA; stop) was identified in exon 8 of the FXI gene. Her parents are first cousins, and a polymerase chain reaction-restriction-fragment length polymorphism analysis revealed that her parents were heterozygous at this nucleotide position. This patient inherited mutant alleles from her parents and is homozygous at this nucleotide position. The nonsense mutation in the FXI gene is responsible for her deficiency of FXI.
authors.affiliation: Division of Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Sato
authors.forename: N
authors.initials: N
authors.lastname: Kawamata
authors.forename: A
authors.initials: A
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Oshimi
mesh_terms: D000328:Adult; D000483:Alleles; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000151:congenital*; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005172:Factor XI