title: Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.
abstract: We investigated an 8-year-old Arab girl with severe factor XI deficiency; one sibling and her father also have severe factor XI deficiency. Her parents and her father's parents are first cousins. Restriction analysis and DNA sequencing excluded the type I, II, III and IV mutations. We demonstrated a previously undescribed C-->A mutation at nucleotide 1254 in exon 11 resulting in a threonine to asparagine (T-->N) substitution at amino acid 386. We postulate that this substitution interferes with folding and secretion of the molecule.
authors.affiliation: Department of Pediatrics, New York University Medical Center, New York 10016, USA.
authors.forename: B
authors.initials: B
authors.lastname: Wistinghausen
authors.forename: A
authors.initials: A
authors.lastname: Reischer
authors.forename: C
authors.initials: C
authors.lastname: Oddoux
authors.forename: H
authors.initials: H
authors.lastname: Ostrer
authors.forename: M
authors.initials: M
authors.lastname: Nardi
authors.forename: M
authors.initials: M
authors.lastname: Karpatkin
mesh_terms: D019943:Amino Acid Substitution; D018912:Arabs; D001216:Asparagine / Q000235:genetics; D002648:Child; D005091:Exons; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; D001216:Asparagine