title: A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient.
abstract: Congenital factor XI deficiency is a rare condition, in which plasma factor XI levels correlate poorly with the severity of haemorrhage. The condition is typically characterized by post-traumatic bleeding. The factor XI gene is located on chromosome 4 and contains 15 exons. More than 80 mutations have so far been described. We describe a novel mutation in the factor XI gene associated with mild factor XI deficiency. The patient, who is of Irish descent, has a history of post-traumatic bleeding and was found to have a borderline factor XI deficiency. DNA sequence analysis of the factor XI gene revealed a novel T to A mutation at nucleotide 168 resulting in the substitution of the cysteine residue at codon 38 with a stop codon (Cys38STOP). The mutation predicts the premature termination of translation of factor XI mRNA resulting in a truncated, and probably unstable, factor XI protein. The presence of the mutation is consistent with the patient's borderline factor XI deficiency.
authors.affiliation: Northern Ireland Comprehensive Care Haemophilia Centre, Belfast City Hospital, Belfast, UK.
authors.forename: Khaled M
authors.initials: KM
authors.lastname: Ramadan
authors.forename: Orla
authors.initials: O
authors.lastname: McNulty
authors.forename: Julia Am
authors.initials: JA
authors.lastname: Anderson
authors.forename: Francis G
authors.initials: FG
authors.lastname: Jones
authors.forename: Paul C
authors.initials: PC
authors.lastname: Winter
mesh_terms: D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics*; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D006470:Hemorrhage / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D005172:Factor XI