Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 7, 2008, Pages 1235-1237

  Heeb, Mary Jo ^a   Gandrille, S ^b,c,d   Fernandez, J A ^a   Griffin, J H ^a   Fedullo, P F ^e  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b INSERM   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e UCSD MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENE PRODUCT; HEPARIN; PROTEIN C; PROTEIN PROS1; PROTEIN S; THYMINE; TRANSCRIPTION FACTOR SP1; WARFARIN;

ADULT; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; DNA SEQUENCE; FAMILY HISTORY; FILIPINO; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HEAD INJURY; HETEROZYGOSITY; HUMAN; ILEOSTOMY; ILEUM RESECTION; LEG THROMBOSIS; MALE; MESENTERIC VEIN THROMBOSIS; MISSENSE MUTATION; PHENOTYPE; POSTOPERATIVE THROMBOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN S DEFICIENCY; TRANSCRIPTION REGULATION; VEIN THROMBOSIS;

ADULT; BLOOD PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PROTEIN S DEFICIENCY; THROMBOSIS;

EID: 45549108606     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.02994.x     Document Type: Article

References (14)

1. Schwarz HP, Fischer M, Hopmeier P, Batard MA, Griffin JH. Plasma protein S deficiency in familial thrombotic disease. Blood 1984; 64: 1297-300.
2. Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with partial deficiency of protein S. N Engl J Med 1984; 311: 1525-8.
3. Thommen D, Buhrfeind E, Felix R, Sulzer I, Furlan M, Lämmle B. Hämostaseparameter bei 55 Patienten mit venösen und/oder arteriellen Thromboembolien. Schweiz Med Wochenschr 1989; 119: 493-9.
4. Chafa O, Fischer AM, Meriane F, Chellali F, Rahal S, Sternberg C, Benabadji M. A new case of "type II" inherited protein S deficiency. Br J Haematol 1989; 73: 501-5.
5. Mahasandana C, Suvatte V, Marlar RA, Manco-Johnson MJ, Jacobson LJ, Hathaway WE. Neonatal purpura fulminans associated with homozygous protein S deficiency. Lancet 1990; 335: 61-2.
6. Gómez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-6.
7. Mintz-Hittner HA, Miyashiro MJ, Knight-Nanan D, O'Malley RE, Marlar RA. Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. Ophthalmology 1999; 106: 1525-30.
8. Dogan Y, Aygun D, Yilmaz Y, Kanra G, Secmeer G, Besbas N, Gurgey A. Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans. Pediatr Hematol Oncol 2003; 20: 1-5.
9. Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H. Two novel splice site mutations in a compound heterozygous patient with protein S deficiency. Thromb Haemost 1997; 77: 14-20.
10. Hui CH, Lam CC, Sze CS. A family of protein S deficiency including two adults with homozygous deficiency. Thromb Haemost 1997; 78: 1158-9.
11. Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. Molecular basis for protein S deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies. J Lab Clin Med 1996; 128: 218-27.
12. de Wolf CJF, Cupers RMJ, Bertina RM, Vos HL. Constitutive expression of protein S is regulated through multiple sites for Sp1 and Sp3 transcription factors in the protein S gene promoter. J Biol Chem 2006; 281: 17635-43.
13. Heeb MJ, Koenen RR, Fernández JA, Hackeng TM. Direct anticoagulant activity of protein S-C4b binding protein complex in Heerlen heterozygotes and normals. J Thromb Haemost 2004; 2: 1766-73.
14. Heeb MJ, Kojima Y, Greengard JS, Griffin JH. Activated protein C resistance: Molecular mechanisms based on studies using purified Gln 506 -factor V. Blood 1995; 85: 3405-11.