Genomes and Genes
factor vii deficiency
Summary: An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
- Xu H, Ploplis V, Castellino F. A coagulation factor VII deficiency protects against acute inflammatory responses in mice. J Pathol. 2006;210:488-96 pubmed
- McVey J, Boswell E, Takamiya O, Tamagnini G, Valente V, Fidalgo T, et al. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. Blood. 1998;92:920-6 pubmed
- Borensztajn K, Sobrier M, Fischer A, Chafa O, Amselem S, Tapon Bretaudiere J. Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection. Blood. 2003;102:561-3 pubmed..These findings, which suggest the existence of a mechanism selecting one single splice site among multiple cryptic sites, explain the patient's phenotype. ..
- Mariani G, Herrmann F, Dolce A, Batorova A, Etro D, Peyvandi F, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost. 2005;93:481-7 pubmed..Genotype-phenotype relationships indicate the presence of major environmental and/or extragenic components modulating expressivity of FVII deficiency. ..
- Jayandharan G, Viswabandya A, Nair S, Chandy M, Srivastava A. Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. Haematologica. 2007;92:1002-3 pubmed..These mutations were considered to be causative of disease because of their nature, evolutionary conservation and molecular modeling. This is the first report of mutations in patients with FVII deficiency from southern India. ..
- Millar D, Kemball Cook G, McVey J, Tuddenham E, Mumford A, Attock G, et al. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum Genet. 2000;107:327-42 pubmed..This suggests that the presence of these alleles may have served to increase the likelihood of pathological F7 gene lesions coming to clinical attention. ..
- Xu Z, Xu H, Ploplis V, Castellino F. Factor VII deficiency impairs cutaneous wound healing in mice. Mol Med. 2010;16:167-76 pubmed publisher..The results from these studies demonstrate an in vivo mechanistic relationship between FVIIa, Egr-1 and the inflammatory response in keratinocyte function during the wound healing process. ..
- Pinotti M, Rizzotto L, Balestra D, Lewandowska M, Cavallari N, Marchetti G, et al. U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. Blood. 2008;111:2681-4 pubmed..These findings suggest compensatory U1-snRNAs as therapeutic tools in coagulation factor deficiencies caused by mutations at 5'ss, a frequent cause of severe defects. ..
- Hewson M, Carter J. Severe congenital Factor VII deficiency associated with the 13q deletion syndrome. Am J Hematol. 2002;71:232-3 pubmedThe first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome is presented...
- Pinotti M, Rizzotto L, Pinton P, Ferraresi P, Chuansumrit A, Charoenkwan P, et al. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. J Thromb Haemost. 2006;4:1308-14 pubmed..These results provide the rationale for a mutation-specific therapeutic approach in FVII deficiency. ..
- Bernardi F, Castaman G, Pinotti M, Ferraresi P, di Iasio M, Lunghi B, et al. Mutation pattern in clinically asymptomatic coagulation factor VII deficiency. Hum Mutat. 1996;8:108-15 pubmed..screening or checkup for prolonged prothrombin time, were characterized for the presence of coagulation factor VII deficiency. Fourteen subjects carried a partial and asymptomatic deficiency, and in half of them dysfunctional ..
- Giansily Blaizot M, Thorel D, Khau Van Kien P, Behar C, Romey M, Mugneret F, et al. Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency. Br J Haematol. 2007;138:359-65 pubmed..3% of mutant alleles in our sample, is now available in inherited FVII deficiency. This test should complement conventional PCR-based techniques not only in unsolved cases, but also where inheritance pattern analysis is not achievable. ..
- Pinotti M, Bindini D, Papa M, Rodorigo G, Rocino A, Mariani G, et al. Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser). Blood. 2002;99:1495-7 pubmed..Furthermore, in a plasma system with limiting thromboplastin concentration, 283Ser-FVII inhibited wild-type FVIIa activity in a dose-dependent manner. ..
- Giansily Blaizot M, Aguilar Martinez P, Biron Andreani C, Jeanjean P, Igual H, Schved J. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. Eur J Hum Genet. 2001;9:105-12 pubmed..Whether a small release of FVII is sufficient to initiate the coagulation cascade and to prevent the expression of a severe phenotype, requires further investigations. ..
- Zheng X, Kudaravalli R, Russell T, DiMichele D, Gibb C, Russell J, et al. Mutation in the factor VII hepatocyte nuclear factor 4?-binding site contributes to factor VII deficiency. Blood Coagul Fibrinolysis. 2011;22:624-7 pubmed publisher..The constancy of FVII:C and peripubertal patient symptomatology reported here illustrates androgen-independent expression in contrast to expression with an analogous mutation in the promoter region of the gene encoding coagulation FIX. ..
- Wulff K, Herrmann F. Twenty two novel mutations of the factor VII gene in factor VII deficiency. Hum Mutat. 2000;15:489-96 pubmed..Different haplotypes were identified in two patients with the mutant allele A206T. It is likely that identical mutant FVII alleles with the same haplotype share the same origin. ..
- Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily Blaizot M, et al. Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. Haematologica. 2012;97:705-9 pubmed publisher..R462X mutation, which explains the asymptomatic FVII deficiency, and contributes to our understanding of the role of the highly variable carboxy-terminus of coagulation serine proteases. ..
- Peyvandi F, Garagiola I, Palla R, Marziliano N, Mannucci P. Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency. Hum Mutat. 2005;26:455-61 pubmed..The insertion polymorphism in the 3' untranslated region of F7 is another modifier of FVII expression that might explain the poor genotype-phenotype correlation in some FVII-deficient patients. ..
- Toor A, Slungaard A, Hedner U, Weisdorf D, Key N. Acquired factor VII deficiency in hematopoietic stem cell transplant recipients. Bone Marrow Transplant. 2002;29:403-8 pubmed..We conclude that FVII deficiency should be considered in the differential diagnosis of prolonged PT in patients who have recently undergone SCT. The mechanism of this acquired deficiency state remains to be defined. ..
- MacLaren R, Weber L, Brake H, Gardner M, Tanzi M. A multicenter assessment of recombinant factor VIIa off-label usage: clinical experiences and associated outcomes. Transfusion. 2005;45:1434-42 pubmed..Bleeding is rare with prophylactic rFVIIa but the cessation of bleeding is less than reported in the literature and may be related to pH. Possible adverse events are related to undesirable clotting. ..
- Thomas A, Stirling D. Four factor deficiency. Blood Coagul Fibrinolysis. 2003;14 Suppl 1:S55-7 pubmed..Expression studies are being completed so that this region can be definitively ascribed as a cis-acting element involved in gene regulation. ..
- Ozawa T, Takikawa Y, Niiya K, Ejiri N, Suzuki K, Sato S, et al. Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. Br J Haematol. 1998;101:47-9 pubmedWe investigated the molecular basis of factor VII deficiency in a Japanese patient and identified a novel missense mutation in the signal sequence of the gene. Factor VII activity and antigen level measured in the patient were 10...
- Mansouritorghabeh H, Badiei Z, Noori F. Clinical pictures and prevalence of factor VII deficiency in Northeastern of Iran. Haemophilia. 2008;14:157-9 pubmed
- Tiscia G, Favuzzi G, Chinni E, Colaizzo D, Fischetti L, Intrieri M, et al. Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. Hum Genome Var. 2017;4:17048 pubmed publisherThis study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency...
- Yasunaga C, Suehisa E, Toku M, Kawasaki T, Hidaka Y. Frequencies of mild factor V, VII and X deficiencies in a Japanese population. Blood Coagul Fibrinolysis. 2008;19:597-600 pubmed publisher..ratios in the remaining 97 samples and identified one sample with factor V deficiency and two with factor VII deficiency. Thus, six samples with coagulation factor deficiency were identified (factor X: one; factor V: two; ..
- Brenner B, Wiis J. Experience with recombinant-activated factor VII in 30 patients with congenital factor VII deficiency. Hematology. 2007;12:55-62 pubmed..These 39 cases support data confirming the safety and efficacy of rFVIIa in its EU-licensed indications, including that for preventing and/or controlling haemorrhage in patients with congenital FVII deficiency. ..
- Payne J, MacLean R, Hampton K, Baxter A, Makris M. Haemoperitoneum associated with ovulation in women with bleeding disorders: the case for conservative management and the role of the contraceptive pill. Haemophilia. 2007;13:93-7 pubmed..We describe three patients presenting with haemoperitoneum in association with factor VII deficiency, factor X deficiency and sitosterolaemia...
- Benlakhal F, Mura T, Schved J, Giansily Blaizot M. A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor VII-deficient patients. J Thromb Haemost. 2011;9:1149-56 pubmed publisher..By applying these recommendations, minor procedures that risk only external or controlled hemorrhage can be performed in asymptomatic or mildly affected adults, even those with FVII:C levels below 10%. ..
- Divanon F, Hecquard C, Borel Derlon A. Experience with use of recombinant activated factor VII. J Clin Pharm Ther. 2002;27:133-8 pubmed..There is no doubt that rFVIIa is useful in the therapeutic management of patients with antibodies to FVIII or FIX. However, the treatment is expensive and a cost-effectiveness analysis would be useful. ..
- Reddy M, Tawfik B, Gavva C, Yates S, De Simone N, Hofmann S, et al. Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency. Transfus Apher Sci. 2016;55:364-367 pubmed publisher..This case provides further evidence that moderate to severe FVII deficiency does not protect against thrombosis. ..
- Canatan D, Eren E, Ozguner I, Duman H, Eren C, Buyukyavuz I, et al. The use of recombinant activated factor VII in the circumcision operation in the case of a congenital factor VII deficiency. Blood Coagul Fibrinolysis. 2007;18:375-6 pubmedCongenital factor VII deficiency is a rare autosomal recessive hemorrhagic disorder and surgery is normally the cause of excessive bleeding...
- Heller M, Lau W, Pazmino Canizares J, Brandao L, Carcao M. A comprehensive review of rFVIIa use in a tertiary care pediatric center. Pediatr Blood Cancer. 2008;50:1013-7 pubmed..The use of rFVIIa in patients without congenital bleeding disorders (all "off-label" use) is rapidly growing in both number of patients and in total use and has likely significant clinical and economic ramifications. ..
- Nicolaisen E. Antigenicity of activated recombinant factor VII followed through nine years of clinical experience. Blood Coagul Fibrinolysis. 1998;9 Suppl 1:S119-23 pubmed
- Mor Cohen R, Zivelin A, Fromovich Amit Y, Kovalski V, Rosenberg N, Seligsohn U. Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations. Blood Coagul Fibrinolysis. 2007;18:139-44 pubmed
- Napolitano M, Siragusa S, Mariani G. Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. J Clin Med. 2017;6: pubmed publisherb>Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding ..
- Ingerslev J, Christiansen K, Sørensen B. Inhibitor to factor VII in severe factor VII deficiency: detection and course of the inhibitory response. J Thromb Haemost. 2005;3:799-800 pubmed
- Safaz I, Alaca R, Bozlar U, Yasar E. Bilateral sciatic nerve entrapment due to heterotopic ossification in a traumatic brain-injured patient. Am J Phys Med Rehabil. 2008;87:65-7 pubmed..Presenting the first report of a sciatic nerve entrapment secondary to a HO in TBI, we herein discuss the concurrence of a lower-motor nerve problem in a patient with an upper-motor nerve injury...
- Chilton A, Hussain T, Elias E. Paracetamol poisoning unmasking factor VII deficiency. Eur J Gastroenterol Hepatol. 2002;14:441-3 pubmed..parameters did not correlate; this prompted investigation into her coagulation profile, which revealed a factor VII deficiency and explained the observed abnormalities of an elevated INR, normal partial thromboplastin time and normal ..
- Aynaoğlu G, Durdağ G, Ozmen B, Soylemez F. Successful treatment of hereditary factor VII deficiency presented for the first time with epistaxis in pregnancy: a case report. J Matern Fetal Neonatal Med. 2010;23:1053-5 pubmed publisherTo present a rare case with factor VII deficiency (FVIID) that first diagnosed during pregnancy, and to disccuss the ante-, peri- and postpartum management. A case report and review of the literature...
- Weiskopf R. Recombinant-activated coagulation factor VIIa (NovoSeven): current development. Vox Sang. 2007;92:281-8 pubmed..This review summarizes the current development of rFVIIa, focusing on results of prospective, randomized clinical trials. ..
- Shen M, Lin J, Lin S, Yang W, Lin B. Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients. Br J Haematol. 2001;112:566-71 pubmed..In conclusion, four novel mutations of the FVII gene in Taiwanese, including two missense mutations in exon 8, one point mutation at the exon 6 splice site and one deletion in exon 1A, were identified. ..
- Rodilla Fiz A, GarvÃ LÃ³pez M, GÃ³mez Garrido M, GirÃ³n la Casa M. Changes in haemostasis and thrombosis associated with thyroid disease: Presentation of 2 cases. Rev Esp Anestesiol Reanim. 2016;63:357-60 pubmed publisher..They were shown to have haemostasis disorders during the preoperative work up. These showed a Factor VII deficiency and a Factor XI deficiency along with a thrombotic disease of unknown origin, respectively.
- Ruiz Saez A. Occurrence of thrombosis in rare bleeding disorders. Semin Thromb Hemost. 2013;39:684-92 pubmed publisher..For mild factor deficiencies, antithrombotic prophylaxis must be considered with or without concomitant use of replacement therapy. For all patients, it is also recommended to control known cardiovascular disease risk factors. ..
- Kundrotas G, Drongiene A, Stankevicius G, Lenkaitis R, Genys M, Dulinskas A, et al. [The influence of factor VII deficiency on cardiac operations with extracorporeal circulation]. Medicina (Kaunas). 2002;38 Suppl 2:206-8 pubmed..The postoperative bleeding was compared to average of the year. No difference was found. The patients with mild FVII deficiency may safely undergo cardiac surgery with extracorporeal circulation. ..
- Hedner U, Brun N. Recombinant factor VIIa (rFVIIa): its potential role as a hemostatic agent. Neuroradiology. 2007;49:789-93 pubmed..The importance of platelets and platelet membrane phospholipids in hemostasis has been demonstrated, and the new concept of the hemostatic process, focusing on cell surfaces, has been outlined. ..
- Ding Q, Wang H, Wang X, Wang M, Fu Q, Wu W, et al. [Molecular genetic analysis for a pedigree with severe hereditary coagulation factor VII deficiency]. Zhonghua Nei Ke Za Zhi. 2003;42:692-6 pubmed..Three heterozygous mutations were found in a pedigree with hereditary coagulation factor VII deficiency. Arg152Leu and deletion C at position 11487-9(CCC) were novel mutations.
- Brummel Ziedins K, Rivard G, Pouliot R, Butenas S, Gissel M, Parhami Seren B, et al. Factor VIIa replacement therapy in factor VII deficiency. J Thromb Haemost. 2004;2:1735-44 pubmed..3-0.7 nmol L(-1)/equivalent dose: 0.8-1.8 micro g kg(-1)) is approximately 1/10 that currently used in treating FVII-deficient individuals and suggests that therapies should be altered relative to the concentration of the FVII zymogen. ..
- Niikura T, Nishikawa T, Saegusa Y, Fujishiro T, Yoshiya S, Kurosaka M. Total hip arthroplasty in severe congenital factor VII deficiency: successful use of recombinant activated factor VII for hemostasis. J Arthroplasty. 2005;20:396-400 pubmed..During surgery and the 3-day postoperative treatment period, we observed normal hemostasis with no excessive bleeding or complications. ..
- McMahon M, James A. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy. Obstet Gynecol. 2001;97:808-9 pubmed..The remainder of her postpartum course was normal. Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin K and fresh frozen plasma. ..
- Peyvandi F, Bolton Maggs P, Batorova A, de Moerloose P. Rare bleeding disorders. Haemophilia. 2012;18 Suppl 4:148-53 pubmed publisher..In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies. ..
- Mariani G, Lapecorella M, Dolce A. Steps towards an effective treatment strategy in congenital factor VII deficiency. Semin Hematol. 2006;43:S42-7 pubmed..This is a prospective study that aims to evaluate the efficacy and safety of the different therapeutic options with which FVII-deficient patients may be treated. Recruitment of patients into the study is currently underway. ..
- Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lanir N, et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost. 1996;76:283-91 pubmed..5 in Moroccan Jews and 1:40 in Iranian Jews. As Moroccan Jews have been separated from Iranian Jews for more than two millennia, the data suggest that the Ala244Val mutation occurred in ancient times. ..