A novel mutation that leads to a congenital factor XI deficiency in a Japanese family

American Journal of Hematology

Volumn 63, Issue 4, 2000, Pages 165-169

  Sato, Eriko ^a   Kawamata, Norihiko ^a   Kato, Atsushi ^a   Oshimi, Kazuo ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CMR ; Direct sequencing; Nonsense mutation; PCR RFLP

Indexed keywords

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; JAPAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; ALLELES; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; HUMANS; JAPAN; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0034020027     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(200004)63:4<165::AID-AJH1>3.0.CO;2-Q     Document Type: Article

References (24)

1. Kurachi K, Davie EW. Activation of human factor XI (plasma thromboplastin antecedent) by factor XIIa (activated Hageman factor). Biochemistry 1977;16:5831.
2. Thompson RE, Mandle RJ, Kaplan AP. Association of factor XI and high molecular weight kininogen in human plasma. J Clin Invest 1977; 60:1376.
3. Asakai R, Davie FW, Chung DW. Organization of the gene for human factor XI. Biochemistry 1987;26:7221.
4. Kato A, Asakai R, Davie EW, Aoki N. Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet 1989;52:77.
5. rd edition. Philadelphia: J.B. Lippincott Company, 1994.
6. Seligsohn U. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood 1978;51:1223.
7. Leiba H, Ramot B, Many A. Heredity and coagulation studies in ten families with Factor XI (plasma thromboplastin antecedent) deficiency. Br J Haematol 1965;11:654.
8. Asakai R, Chung DW, Davie EW, Selingsohn U. Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med 1991;325:153.
9. Ragni MV, Sinhu D, Seaman F, Lewis JH, Spero JA, Walsh PN. Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. Blood 1985;65: 719.
10. Mannhalter C, Hellstern P, Deutsch E. Identification of a defective factor XI cross-reacting material in a factor XI-deficient patient. Blood 1987;70:31.
11. Pugh RE, McVey JH, Tuddenham EGD, Hancock JF. Six point mutations that cause factor XI deficiency. Blood 1995;85:1509.
12. 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.
13. Imanaka Y, Lal K, Nishimura T, Bolton MP, Tuddenham EG, McVey JH. Identification of two novel mutations in non-Jewish factors XI deficiency. Br J Haematol 1995;90:916.
14. Baserga SJ, Benz EJ. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 1988;85:2056.
15. Hatskelzon L, Dvilansky A, Holcberg G. Factor XI deficiency in a Bedouin family. Am J Hematol 1996;52:121.
16. Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 1989;86:7667.
17. Dati F, Barthels M, Conard J, Girolami A, Hanseler E, Huber J, Keller F, Kolde HJ, Muller-Berghaus G, Samama M, Thiel W. Multicenter evaluation of a chromogenic substrate method for photometric determination of prothrombin time. Thromb Haemost 1987;58:856.
18. nd edition. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989.
19. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239:487.
20. Atweh GF, Brickner HE, Zhu XX, Kazazian HJ, Forget BG. New amber mutation in a β-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo. J Clin Invest 1988;82:557.
21. Daar IO, Maquat LE. Premature translation termination mediates triosephosphate isomerase mRNA degradation. Mol Cell Biol 1988;8: 802.
22. Globerman H, Amor M, Parker KL, New MI, White PC. Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest 1988;82:139.
23. Atwater JA, Wisdom R, Verma IM. Regulated mRNA stability. Annu Rev Genet 1990;24:519.
24. Cheng J, Fogel PM, Maquat LE. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 1990;10:5215.