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Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11
Author(s) -
Wistinghausen Birte,
Reischer Amy,
Oddoux Carole,
Ostrer Harry,
Nardi Michael,
Karpatkin Margaret
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.4343244.x
Subject(s) - exon , mutation , genetics , asparagine , sibling , threonine , factor xi , nucleotide , microbiology and biotechnology , biology , amino acid , gene , medicine , phosphorylation , serine , psychology , developmental psychology , coagulation
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.