Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11

• Published in: British journal of haematology Vol. 99; no. 3; pp. 575 - 577
• Main Authors: Wistinghausen, Birte, Reischer, Amy, Oddoux, Carole, Ostrer, Harry, Nardi, Michael, Karpatkin, Margaret
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.12.1997; Blackwell
• Subjects: Amino Acid Substitution; Arabs; Asparagine - genetics; Biological and medical sciences; Child; DNA mutational analysis; Exons; factor XI deficiency; Factor XI Deficiency - genetics; Female; Hematologic and hematopoietic diseases; Humans; Medical sciences; Mutation; non‐Jewish; Pedigree; Platelet diseases and coagulopathies; Threonine - genetics; Human; Deficiency; Hemopathy; Homozygosity; Genetic disease; Case study; Factor XI; Gene; Female; Genetics; Mutation; Molecular biology; Child; Coagulation factor; Coagulopathy
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.1997.4343244.x

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.