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

Birte Wistinghausen, Amy Reischer, Carole Oddoux, Harry Ostrer, Michael Nardi, Margaret Karpatkin

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)575-577
Number of pages3
JournalBritish Journal of Haematology
Volume99
Issue number3
DOIs
Publication statusPublished - Jan 1 1997
Externally publishedYes

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Keywords

  • DNA mutational analysis
  • Factor XI deficiency
  • Non-Jewish

ASJC Scopus subject areas

  • Hematology

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