EAHAD Factor X Variant Database

F10 DB Published References


First Author Year Title PMID Link
Ahnstrom J 2020 Partial rescue of naturally occurring active site factor X variants through decreased inhibition by tissue factor pathway inhibitor and antithrombin 31466141
Akhavan S 2007 Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect? 17391309
Al-Hilali A 2007 Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly 17393015
Ameri A 2007 A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX 18064309
Arita K 2018 Factor X heterozygous mutation in a patient with potential risk of bleeding: A case report 29879041
Au WY 2004 Two novel factor X gene mutations in a Chinese family with factor X deficiency 15060750
Bang SH 2012 Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report 22506295
Barillari G 2011 Prothrombin complex concentrate such as therapy and prophylaxis in factor X-deficient patient (Friuli variant) 20308229
Bereczky Z 2007 Two novel missense mutations (Thr233Met and Trp308Leu) in the factor X gene and their functional consequences in a patient with severe factor X deficiency Conference/Suppl Publication
Bereczky Z 2008 Factor X Debrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency 18245654
Bernardi F 1989 Partial gene deletion in a family with factor X deficiency 2567188
Bernardi F 1994 Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro) 7981691
Bezeaud A 1995 Functional consequences of the Ser334-->Pro mutation in a human factor X variant (factor X Marseille) 8529633
Borhany M 2018 Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations 30036279
Brown DL 2008 Review: Diagnosis and treatment of inherited factor X deficiency 19141158
Camire R 2003 Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism 12813758
Chafa O 2009 Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X 19135706
Chen T 2018 [Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency] 30098253
Chikasawa Y 2014 Factor X M402T: a homozygous missense mutation identified as the cause of cross-reacting material-reduced deficiency 25064371
Cooper DN 1997 Review: Inherited factor X deficiency: molecular genetics and pathophysiology 9198147
Corsini I 2015 Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up 26083982
De Stefano V 1988 Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation 3408671
Deam S 2001 F X Nottingham and F X Taunton. Two novel mutations in factor X resulting in loss of functional activity and an interpretation using molecular modelling 11246545
Deam S 2003 Factor X Leicester: Ile411Phe associated with a low antigen level and a disproportionately low functional activity of factor X 12871478
Deam S 2004 Two new factor X mutations (Pro382Leu and Phe356Cys) associated with low activity and low antigen levels 15543350
Deshpande R 2017 Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency 26919454
Diesch T 2016 Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature 27098186
Ding Q 2013 The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade 23677006
Dorgalaleh A 2016 Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency 26891460
Dorgalaleh A 2017 Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran 27894217
Epcacan 2015 Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency 26222694
Escobar MA 2016 [No genetic data] Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery 27217097
Eyre TA 2015 Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2 25803519
Fair DS 1985 Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analyses 3970856
Fair DS 1989 Isolation and characterization of the factor X Friuli variant 2471558
Ferrarese M 2019 Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition 30994257
Forberg E 2000 The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys) 10739379
Garg M 2020 Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant 30870385
Gerhardt A 2008 Report on a disease-adapted treatment in a patient with severe factor X deficiency resulting from a homozygous factor X gene mutation 18217161
Girolami A 1970 A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred 4989292
Girolami A 1985 Factor X Padua: a 'new' congenital factor X abnormality with a defect only in the extrinsic system 3923765
Girolami A 2004 A new mutation (Arg251Trp) in the Ca2+ binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua 14979399
Girolami A 2008A Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation 18506702
Girolami A 2008B Different genotypes are responsible for the normal Russell viper venom assays seen in some cases of congenital factor X deficiency 18785643
Girolami A 2009A Review: The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain 19490765
Girolami A 2009B Unexplained discrepancies in the activity--antigen ratio in congenital FX deficiencies with defects in the catalytic domain 19666942
Girolami A 2015 Review: Complex history of the discovery and characterization of congenital factor X deficiency 25875733
Girolami A 2016A A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys) 27031279
Girolami A 2016B Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched versus 128 unaffected family members, during a long sequential observation period (23.5 years) 27124643
Girolami A 2017 Congenital FX Deficiency Rio Tercero: A New Heterozygous Missense Mutation (Cys241Gly) with a Potentiating Effect by a Polymorphism (c. 503-57C>T) 28891452
Girolami A 2018 Factor X Friuli Coagulation Disorder: Almost 50 Years Later 28030967
Girolami A 2019 Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1) 30539705
Grottke O 2019 Plasma-derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report 30964547
Hainmann I 2009 Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency 19404516
Hayashi T 1998 Molecular abnormality observed in a patient with coagulation factor X (FX) deficiency: a novel three-base-pair (CTT) deletion within the polypyrimidine tract of the FX intron D 9734641
Herrmann FH 2005 Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage 15644837
Herrmann FH 2006 Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene 16919077
Hirano K 2006 Gene analysis of inherited factor X deficiency and functional consequences of G114R and G223V mutations in a human factor X variant Conference/Suppl Publication
Hu Z 2017 Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway 28576875
Hutchins K 2017 Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion 28580769
Iijima K 2001 A dysfunctional factor X (factor X Kurayoshi) with a substitution of Arg 139 for Ser at the carboxyl-terminus of the light chain 11248292
Ingerslev J 2007 Severe factor X deficiency in a pair of siblings: clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment 17498086
Isshiki I 2005 Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X 15650540
James HL 1991 Molecular defect in coagulation factor X Friuli results from a substitution of serine for proline at position 343 1985698
Jayandharan G 2005 Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin 15892863
Jin Y 2016 [Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree] 27264807
Jin Y 2018 A novel factor X mutation Cys81 by Arg and a reported factor VII polymorphism Arg353 replaced by Gln co-occured in a patient 29251640
Karimi M 2008 Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency 18403394
Karimi M 2012 Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran 21854511
Kim DJ 1995A Factor X Ketchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain 7860069
Kim DJ 1995B Factors X Wenatchee I and II: compound heterozygosity involving two variant proteins 7605799
Kulkarni BP 2014 Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review 25275492
Laurie AD 2013 Severe FX deficiency caused by a homozygous double deletion involving F10 and PROZ genes 23919930
Leytus SP 1986 Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C 3768336
Li F 2019 The Disulfide Bond between Cys22 and Cys27 in the Protease Domain Modulate Clotting Activity of Coagulation Factor X 30919383
Li M 2016 Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide 28164683
Liang Q 2013 Six novel missense mutations causing factor X deficiency and application of thrombin generation test 23664564
Liu T 2019 Rare bleeding disorders and advances in gene therapy 31738733
Livnat T 2011 Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry 22008904
Lu Q 2014 Molecular basis of the clotting defect in a bleeding patient missing the Asp-185 codon in the factor X gene 25179519
Lu S 2021 A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree 32599596
MacDonald S 2020 Investigation of patients with unclassified bleeding disorder and abnormal thrombin generation for physiological coagulation inhibitors reveals multiple abnormalities and a subset of patients with increased tissue factor pathway inhibitor activity 32003946
Madhusoodhan PP 2017 Splice site mutation in factor X gene manifesting as severe intracranial haemorrhage in neonatal period with a challenging treatment course 27995737
Mannucci PM 2004 Review: Recessively inherited coagulation disorders 15138162
Marchetti G 1995 Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain 7669671
Matsuo Y 2017 Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage 28302935
Menegatti M 2004 A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency 15307115
Menegatti M 2009 Review: Factor X deficiency 19598069
Menegatti M 2014 A recurrent Gly43Asp substitution in coagulation Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellular trafficking 24393662
Messier TL 1996 Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X 8845463
Millar DS 2000 Molecular analysis of the genotype-phenotype relationship in factor X deficiency 10746568
Mitchell M 2019 Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency 30507709
Miyata T 1998A Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively. 9531027
Miyata T 1998B Factors X Nice I and II: two novel missense mutations (Met-40Val and Pro304Ser) in patient with coagulation factor X deficiency 9799000
Monti M 2009 Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity 19108874
Morishita E 2001 One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa 11345209
Morovvati S 2015 Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran 25984924
Mota L 2010 Molecular basis of factor X deficiency cases from India 20331754
Nagaya S 2018 Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins 30152566
Nobauer-Huhmann IM 1998 Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys) 9622212
Odom MW 1994 Five novel point mutations: two causing haemophilia B and three causing factor X deficiency 8028609
Onat A 1994 Homozygous factor X deficiency associated with familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy 8023645
Oner AF 2018 Use of a High-Purity Factor X Concentrate in Turkish Subjects with Hereditary Factor X Deficiency: Post Hoc Cohort Subanalysis of a Phase 3 Study 29545231
Othman T 2019 Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade 31662920
Padmanabhan K 1993 Structure of human des(1-45) factor Xa at 2.2 A resolution 8355279
Paraboschi EM 2020 Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 31699787
Pavlova A 2015 Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms 25582404
Perry DJ 1997 Review: Factor X and its deficiency states 27214799
Peyvandi F 1998 Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients 9695984
Peyvandi F 2002A Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency 12028042
Peyvandi F 2002B Review: Rare coagulation deficiencies 12010428
Peyvandi F 2012 [clinical review: no genetic data] Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders 22321862
Pinotti M 2002 Reduced activation of the Gla19Ala FX variant via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency 12195695
Pinotti M 2003 Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency 12574802
Pinotti M 2004 Molecular characterization of factor X deficiency associated with borderline plasma factor X level 15075089
Racchi M 1993 Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum 8449937
Rath M 2015 Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies 26540129
Rauch R 2011 Factor X deficiency and intracranial bleeding: who is at risk? 21682820
Reddy SV 1989 Molecular characterization of human factor X San Antonio 2790181
Riccardi F 2015 Cryptic 13q34 and 4q35.2 Deletions in an Italian Family 26645620
Rudolph AE 1996 Factor X St. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein 8910490
Scambler PJ 1985 The structural gene for human coagulation factor X is located on chromosome 13q34 4042693
Shen M 2004 A novel mutation with Ins C (882-883) of the factor X gene in a Taiwanese Chinese factor X-deficient family 14748350
Shetty S 2010 Modulation of severity of clinical bleeding by co-inherited thrombophilia is also true for severe factor X deficiency 19900433
Shinohara K 2008 A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu 18270656
Simioni P 2001 A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family 11248282
Sun N 2016 A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity 26708756
Tan CW 2012 Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes 22126652
Teixeira P 2020 Factor X deficiency and pregnancy: case report and counselling 32458586
Thachil JV 2006 Factor X deficiency presenting as a pseudotumor. Case report 16572640
Todd T 2006 Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain 17083512
Togashi T 2020 Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate 31667683
Uprichard J 2002 Review: Factor X deficiency 12127953
van Dievoet MA 2018 A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature 30507056
Vanden Hoek AL 2012 Coagulation factor X Arg386 specifically affects activation by the intrinsic pathway: a novel patient mutation 23039000
Vianello F 2001 A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-->Arg) and an abnormality (Ser(334)-->Pro) 11728527
Vianello F 2002 Conformation sensitive gel electrophoresis for detection of factor X gene mutations 12413589
Vianello F 2003 A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain 12945883
Wallmark A 1991A Molecular defect (Gla26Asp) and its functional consequences in a hereditary factor X deficiency (factor X Malmo 4) Conference/Suppl Publication
Wallmark A 1991B Molecular defect in factor X Ockero: a mild congenital factor X deficiency Conference/Suppl Publication
Wang MS 2011 [Gene analysis of a combined inherited factor VII and factor X deficiency pedigree] 22339961
Wang WB 2004 [Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene] 15569527
Wang WB 2005A Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree 15660986
Wang WB 2005B Factor X Shanghai and disruption of translocation to the endoplasmic reticulum 16330440
Wang Y 2015 A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency 26309706
Watzke HH 1990 Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg") 1973167
Watzke HH 1991 Factor X Santo Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. 1939653
Watzke HH 1993 Molecular and in vitro expression of a hereditary CRM-negative factor X variant, FX Vienna Conference/Suppl Publication
Wieland K 1991 Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism 1997381
Yin J 2001 [Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene] 11758231
Zama T 1999 A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo) 10468877
Zhang X 2020 Molecular mechanism of a novel Ser362Asn mutation causing inherited FX deficiency in a Chinese family 32285359
Zheng F 2011 Congenital combined deficiency of factor VII and X in a patient due to accidental diphacinone intoxication 21544315
Zhou JW 2013 Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del 22931370