title: Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G).
abstract: We investigated a 42-year-old Caucasian woman with severe factor XI deficiency and her family members. Restriction enzyme analysis and DNA sequencing revealed compound heterozygosity in the patient for the known type III mutation, which is a Phe283Leu amino acid substitution in the fourth apple domain causing impaired dimerization and secretion, and for a novel frameshift mutation in exon 9 (codons 324/325 +G), leading to premature termination with lack of parts of the fourth apple domain and the downstream serine protease domain.
authors.affiliation: Department of Laboratory Medicine, Rudolfstiftung Hospital, Juchgasse 25, A-1030 Vienna, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Dossenbach-Glaninger
authors.forename: W
authors.initials: W
authors.lastname: Krugluger
authors.forename: K
authors.initials: K
authors.lastname: Schrattbauer
authors.forename: S
authors.initials: S
authors.lastname: Eder
authors.forename: P
authors.initials: P
authors.lastname: Hopmeier
mesh_terms: D000328:Adult; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D005172:Factor XI