Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis

American Journal of Medical Genetics

Volumn 91, Issue 5, 2000, Pages 348-350

  Yamada, Hideto ^a   Hoshi, Nobuhiko ^a   Kato, Emi H ^a   Ebina, Yasuhiko ^a   Kishida, Tatsuro ^a   Sagawa, Tadashi ^a   Matsuno, Kazuhiko ^b   Fujimoto, Seiichiro ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

Author keywords

Abortion; Antithrombin; Mutation; Pregnancy; Thrombosis

Indexed keywords

ANTITHROMBIN III; DNA;

ABORTION; ADULT; ARTICLE; CASE REPORT; DEEP VEIN THROMBOSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MATERNAL DISEASE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOSIS;

ABORTION, INDUCED; ADULT; ANTITHROMBIN III; FEMALE; HUMANS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; RECURRENCE; THROMBOSIS;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0034709213     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000424)91:5<348::AID-AJMG5>3.0.CO;2-9     Document Type: Article

References (18)

1. Beresford CH. 1998. Antithrombin III deficiency. Blood Rev 2:239-250.
2. Bock SC, Harris JF, Balazs I, Trent JM. 1985. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 39:67-69.
3. Cosgriff TM, Bishop DT, Hershgold EJ, Skolnick MH, Martin BA, Baty BJ, Carlson KS. 1983. Familial antithrombin III deficiency: its natural history, genetics, diagnosis and treatment. Medicine 62:209-220.
4. Conrad J, Horellou MH, Van Dreden P, Lecompte T, Samama M. 1990. Thrombosis and pregnancy in congenital deficiencies in ATIII, protein C or protein S. Thromb Haemost 63:319-320.
5. Grandrille S, Aiach M, Lane DA, Vidaud D, Molho-Sabatier P, Caso R, de Moerloose P, Fiessinger JN, Clausser E. 1990. Important role of arginine 129 in heparin-binding site of antithrombin III. J Biol Chem 265: 18997-19001.
6. Hellgren M, Tengborn L, Abildgaard U. 1982. Pregnancy in women with congenital antithrombin III deficiency: Experience of treatment with heparin and antithrombin. Gynecol Obstet Invest 14:127-141.
7. Hirsh J, Piovella F, Pini M. 1989. Congenital antithrombin III deficiency: incidence and clinical features. Am J Med (Suppl) 87:34S.
8. Jochmans K, Lissens W, Vervoort R, Peerters S, De Waele M, Liebaers I. 1994. Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. Blood 83: 146-151.
9. Lane DA, Bayston T, Olds RJ, Fitches AC, Cooper DN, Millar DS, Jochmans K, Perry DJ, Okajima K, Thein SL, Emmerich J. 1997. Antithrombin mutation database: 2nd (1997) update. For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the international society on thrombosis and hemostasias. Thromb Haemost 77:197-211.
10. McColl MD, Ramsay JE, Tait RC, Walker ID, McCall F, Conkie JA, Carty MJ, Greer IA. 1997. Risk factors for pregnancy associated venous thromboembolism. Thromb Haemostas 78:1183-1188.
11. Millar DS, Wacey AI, Ribando J, Melissari E, Laursen B, Woods P, Kakkar VV, Cooper DN. 1994. Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. Hum Genet 94:509-512.
12. Olds RJ, Lane DA, Caso R, Panico M, Morris HR, Sas G, Dawes J, Thein SL. 1992. Antithrombin III Budapest: a single amino acid substitution (429 Pro to Leu) in a region highly conserved in the serpin super family. Blood 79:1206-1212.
13. Orita M, Suzuki YH, Sakiya T, Hayashi K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
14. Preston FE, Rosendaal FR, Walker ID, Briet E., Berntorp E, Conard J, Fontcuberta J, Makris M, Mariani G, Noteboom W, Pabinger I, Legnani C, Scharrer I, Schulman S, van der Meer FJM. 1996. Increase fetal loss in women with heritable thrombophilia. Lancet 348:913-916.
15. Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH. 1983. Molecular heterogeneity of inherited antithrombin III deficiency. N Engl J Med 308:1549-1552.
16. Rosenberg RD, Damus PS. 1973. The purification and mechanism of action of human antithrombin-heparin cofactor. J Biol Chem 248:6490-6505.
17. Saiki RK, Bugawon TL, Horn GT, Mullis KB, Erlich HA. 1986. Analysis of enzymatically amplified b-globin and HLA-DQ aDNA with allele-specific oligonucleotide probes. Nature 324:163-166.
18. Sanson BJ, Friederich PW, Simioni P, Zanardi S, Huisman M, Girolami A, Cate JW, Prins MH. 1996. The risk of abortion and stillbirth in antithrombin-, protein C-, and protein S-deficient women. Thromb Haemostas 75:387-388.