Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency

Hristo Stanchev; Malou Philips; Bruno O. Villoutreix; Lise Aksglæde; Stefan Lethagen; Sixtus Thorsen

doi:10.1055/s-0037-1612584

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2006; 95(01): 195-198
DOI: 10.1055/s-0037-1612584

Case Report

Schattauer GmbH

Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency

Authors

Hristo Stanchev

¹Departement of Pediatrics, Storstrømmens Sygehus, Næstved, Denmark
Malou Philips

²Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Bruno O. Villoutreix

³INSERM U648, University of Paris V, School of Pharmacy, Paris, France
Lise Aksglæde

¹Departement of Pediatrics, Storstrømmens Sygehus, Næstved, Denmark
Stefan Lethagen

⁴Haemophilia Centre, Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

⁵Department for Coagulation Disorders, Malmö University Hospital, Lund University, Malmö, Sweden
Sixtus Thorsen

²Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

Abstract

Volltext

Referenzen

References
1 Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
2 International Society on Thrombosis and Haemostasis. Mutations of patients with prothrombin deficiency. http://www.med.unc.edu/isth/mutations-databases/prothrombin.htm.2004
3 Knudsen TT, Thorsen S, Jensen SA. et al. Effect of intravenous N-acetylcysteine infusion on haemostatic parameters in healthy subjects. Gut 2005; 54: 515-21.
4 Laurell CB. Electroimmuno assay. Scand J Clin Lab Invest Suppl 1972; 124: 21-37.
5 Dziegiel MH, Koldkjær O, Berkowicz A. Massive antenatal fetomaternal hemorrhage: evidence for longterm survival of fetal red blood cells. Transfusion 2005; 45: 539-44.
6 Fledelius HC. Retinal haemorrhages in premature infants: a pathogenetic alternative diagnosis to child abuse. Acta Ophthalmol Scand 2005; 83: 424-7.
7 Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 05: 89-99.
8 Kostova Z, Wolf DH. For whom the bell tolls: protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection. EMBO J 2003; 22: 2309-17.
9 Inacio A, Silva AL, Pinto J. et al. Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. J Biol Chem 2004; 279: 32170-80.
10 Banfield DK, MacGillivray RT. Partial characterization of vertebrate prothrombin cDNAs: amplification and sequence analysis of the B chain of thrombin from nine different species. Proc Natl Acad Sci USA 1992; 89: 2779-83.
11 Pineda AO, Carrell CJ, Bush LA. et al. Molecular dissection of Na+ binding to thrombin. J Biol Chem 2004; 279: 31842-53.
12 Bode W, Turk D, Karshikov A. The refined 1.9-A X-ray crystal structure of D-Phe-Pro-Arg chloromethylketone-inhibited human alpha-thrombin: structure analysis, overall structure, electrostatic properties, detailed active-site geometry, and structure-function relationships. Protein Sci 1992; 01: 426-71.
13 Vijayalakshmi J, Padmanabhan KP, Mann KG. et al. The isomorphous structures of prethrombin2, hirugen-, and PPACK-thrombin: changes accompanying activation and exosite binding to thrombin. Protein Sci 1994; 03: 2254-71.
14 Degen SJ, McDowell SA, Sparks LM. et al. Prothrombin Frankfurt:a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala. Thromb Haemost 1995; 73: 203-9.
15 Sun WY, Smirnow D, Jenkins ML. et al. Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia. Thromb Haemost 2001; 85: 651-4.
16 Henriksen RA, Dunham CK, Miller LD. et al. Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia. Blood 1998; 91: 2026-31.
17 Miyata T, Aruga R, Umeyama H. et al. Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity. Biochemistry 1992; 31: 7457-62.
18 Akhavan S, De Cristofaro R, Peyvandi F. et al. Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype. Blood 2002; 100: 1347-53.
19 Di Cera E. Thrombin interactions. Chest 2003; 124: 11S-7S.
20 Sun WY, Witte DP, Degen JL. et al. Prothrombin deficiency results in embryonic and neonatal lethality in mice. Proc Natl Acad Sci USA 1998; 95: 7597-602.
21 Xue J, Wu Q, Westfield LA. et al. Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. Proc Natl Acad Sci USA 1998; 95: 7603-7.
22 Giacoia GP. Severe fetomaternal hemorrhage: a review. Obstet Gynecol Surv 1997; 52: 372-80.
23 Fledelius HC, Gote H, Greisen G. et al. Surveillance for retinopathy of prematurity in a Copenhagen highrisk sample 1999–2001. Has progress reached a plateau? Acta Ophthalmol Scand 2004; 82: 32-7.
24 Chiang MF, Arons RR, Flynn JT. et al. Incidence of retinopathy of prematurity from 1996 to 2000: analysis of a comprehensive New York state patient database. Ophthalmology 2004; 111: 1317-25.
25 Rodriguez RJ. Management of respiratory distress syndrome: an update. Respir Care 2003; 48: 279-86.
26 Whitelaw A. Intraventricular haemorrhage and posthaemorrhagic hydrocephalus: pathogenesis, prevention and future interventions. Semin Neonatol 2001; 06: 135-46.