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 Citations (Scopus)

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
StatePublished - 1997
Externally publishedYes

Fingerprint

Factor XI Deficiency
Fathers
Exons
Parents
Mutation
Asparagine
Threonine
Amino Acid Substitution
DNA Sequence Analysis
Siblings
Nucleotides

Keywords

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

ASJC Scopus subject areas

  • Hematology

Cite this

Wistinghausen, B., Reischer, A., Oddoux, C., Ostrer, H., Nardi, M., & Karpatkin, M. (1997). Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. British Journal of Haematology, 99(3), 575-577.

Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. / Wistinghausen, Birte; Reischer, Amy; Oddoux, Carole; Ostrer, Harry; Nardi, Michael; Karpatkin, Margaret.

In: British Journal of Haematology, Vol. 99, No. 3, 1997, p. 575-577.

Research output: Contribution to journalArticle

Wistinghausen, B, Reischer, A, Oddoux, C, Ostrer, H, Nardi, M & Karpatkin, M 1997, 'Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11', British Journal of Haematology, vol. 99, no. 3, pp. 575-577.
Wistinghausen, Birte ; Reischer, Amy ; Oddoux, Carole ; Ostrer, Harry ; Nardi, Michael ; Karpatkin, Margaret. / Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. In: British Journal of Haematology. 1997 ; Vol. 99, No. 3. pp. 575-577.
@article{e58e08cccadb44f6b9d701aab27c4956,
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.",
keywords = "DNA mutational analysis, Factor XI deficiency, Non-Jewish",
author = "Birte Wistinghausen and Amy Reischer and Carole Oddoux and Harry Ostrer and Michael Nardi and Margaret Karpatkin",
year = "1997",
language = "English (US)",
volume = "99",
pages = "575--577",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell",
number = "3",

}

TY - JOUR

T1 - Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11

AU - Wistinghausen, Birte

AU - Reischer, Amy

AU - Oddoux, Carole

AU - Ostrer, Harry

AU - Nardi, Michael

AU - Karpatkin, Margaret

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

KW - DNA mutational analysis

KW - Factor XI deficiency

KW - Non-Jewish

UR - http://www.scopus.com/inward/record.url?scp=0030703535&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030703535&partnerID=8YFLogxK

M3 - Article

VL - 99

SP - 575

EP - 577

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 3

ER -