Severe factor XI deficiency in a Lebanese family: Identification of a novel missense mutation (Trp501Cys) in the catalytic domain

Blood Coagulation and Fibrinolysis

Volumn 15, Issue 3, 2004, Pages 269-272

  De Moerloose, Philippe ^a   Germanos Haddad, Myrna ^a   Boehlen, Françoise ^a   Neerman Arbez, Marguerite ^b  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Bleeding; Factor XI; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 11; CYSTEINE; TRYPTOPHAN;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTRON; LEBANON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; CATALYTIC DOMAIN; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR XI DEFICIENCY; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; LEBANON; MUTATION, MISSENSE;

EID: 2342431695     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-200404000-00013     Document Type: Article

References (15)

1. Asakai R, Chung DW, Davie DW, Seligsohn U. Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med 1991; 325:153-158.
2. Bolton-Maggs PHB. Factor XI deficiency and its management. Haemophilia 2000; 6:100-109.
3. Shpilberg O, Peretz H, Zivelin R, Yatuv A, Chetrit A, Kulka T, et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (Type 11) is also prevalent in Iraqi Jews, who represent the ancient pool of Jews. Blood 1995; 85:429-432.
4. de Moerloose P, Wutschert R, Heinzmann M, Pemegger T, Reber G, Bounameaux H. Superficial vein thrombosis of lower limbs: influence of factor V Leiden, factor II G20210A and overweight. Thromb Haemost 1998; 80:239-241.
5. Alhaq A, Mitchell M, Sethi M, Rahman S, Flynn G, Boulton P, et al. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. Br J Haematol 1999; 104:44-49.
6. Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency (F5F8D). Blood 1999; 93:2253-2260.
7. Martincic D, Zimmerman SA, Russell EW, Sun M-F, Whitlock JA, Gailani D. Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. Blood 1998; 92:3309-3317.
8. Ijima K, Udagawa A, Kawasaki H, Murakami F, Shimomura T, Ikawa S. A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. Br J Haematol 2000; 111:556-558.
9. Peretz H, Zivelin A, Usher S, Seligsohn U. A 14 bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. Hum Mutation 1996; 8:77-78.
10. Wistinghausen B, Reischer A, Oddoux C, Ostrer H, Nardi M, Karpatkin M. Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. Br J Haematol 1997; 99:575-577.
11. Mitchell M, Cutler J, Thompson S, Moore G, Jenkins E, Smith M, et al. Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol 1999; 107:763-765.
12. Ventura C, Santos Al, Tavares A, Gago T, Lavinha, J, McVey JH, David D. Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. Thromb Haemost 2000; 84:833-840.
13. Zivelin A, Bauduer F, Ducout L, Oeretz H, Rosenberg N, Yatuv R, Seligsohn U. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in factor XI gene. Blood 2002; 99:2448-2454.
14. Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol 2003; 121:500-502.
15. Irani-Hakime N, Tamin H, Bias G, Finan RR, Daccache JL, Almawi WY. High prevalence of factor V mutation (Leiden) in the Eastern Mediterranean. Clin Chem 2000; 46:134-136.