EAHAD Factor XI Variant Database

F11 DB Published References


First Author Year Title PMID Link
Abuli A 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine 26990548
Alhaq A 1999 Identification of a novel mutation in a non-Jewish factor XI deficient kindred 10027710
Alhaq A 2000 Novel mutations in heterozygous factor XI deficiency and hemorrhagic tendency Conference/Suppl Publication
Ando J 2017 Factor XI deficiency as a result of a novel Tyr347Stop nonsense mutation in an elderly Japanese woman 28635111
Asakai R 1987 Organization of the gene for human factor XI 2827746
Asakai R 1989A Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations 2813350
Asakai R 1989B REVIEW: The molecular genetics of factor XI deficiency 2688756
Asakai R 1991 Factor XI deficiency in Ashkenazi Jews in Israel 2052060
Asselta R 2017 Exploring the global landscape of genetic variation in coagulation factor XI deficiency 28615222
Au WY 2003 Two factor XI mutations in a Chinese family with factor XI deficiency 14508802
Barcellona D 2019 A Sardinian Family with Factor XI Deficiency 31364091
Bastida JM 2016 Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders 26879396
Berber E 2010 Characterization of the genetic basis of FXI deficiency in two Turkish patients 20015217
Berber E 2011 REVIEW: Molecular characterization of FXI deficiency 20308231
Berg LP 1994 Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews 8180339
Bicocchi MP 2011 Molecular analysis of severe factor XI deficiency in three Italian patients 21649796
Bicocchi MP 2013 Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation 23305485
Bodfish P 1991 Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymerase chain reaction 1762944
Bolton-Maggs P 1988 Inheritance and bleeding in factor XI deficiency 3408688
Bolton-Maggs P 1995 REVIEW: Definition of the bleeding tendency in factor XI-deficient kindreds--a clinical and laboratory study 7792729
Bolton-Maggs P 1999 Eight novel mutations in factor XI deficient kindreds in northern europe Conference/Suppl Publication
Bolton-Maggs P 2003 Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing Conference/Suppl Publication
Bolton-Maggs P 2004 A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency 15140127
Bozzao C 2007 A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency. 17971173
Brenner B 1997 Bleeding predictors in factor-XI-deficient patients 9491269
Bruzelius M 2016 F11 is associated with recurrent VTE in women. A prospective cohort study 26423325
Butler MG 1990 RFLP for intron E of factor XI gene 1976245
Cargill M 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes 10391209
Castaman G 2007 Ten novel mutations in FXI gene Conference/Suppl Publication
Castaman G 2008A Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations 18515884
Castaman G 2008B Factor XI gene mutations in factor XI deficient patients of the Czech Republic 18839438
Castaman G 2013 A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency 23571684
Castaman G 2014 The spectrum of factor XI deficiency in Italy 24112640
Choi SJ 2014 Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency 24982842
Ciampa EJ 2020 Heterozygote carriers of mutations in the F11 gene, encoding Factor XI, have normal coagulation by thromboelastography during pregnancy 31791878
ClinVAR 2021 ClinVAR ClinVAR
Colakoglu S 2018 Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families 27723456
Dai L 2004 Severe factor XI deficiency caused by compound heterozygosity 15180874
Dai L 2011 Three dominant-negative mutations in factor XI-deficient patients 21457405
dbSNP 2021 dbSNP NA
De La Morena-Barrio ME 2019 Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries 31043424
De Moerloose P 2004 Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain 15060426
De Raucourt E 2008 Four novel FXI gene mutations in three factor XI- deficient patients 18388506
Dorgalaleh A 2019 Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families 31644447
Dossenbach-Glaninger A 2001 Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G) 11564078
Dossenbach-Glaninger A 2003 Hereditary factor XI deficiency: Novel and rare mutations in Austrian patients Conference/Suppl Publication
Dossenbach-Glaninger A 2005 REVIEW. Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency 15870541
Dossenbach-Glaninger A 2006 Coagulation factor XI gene analysis in three factor XI deficient Austrian patients 16519703
Duga S 2011 Commentary: Mutations in disguise 21824284
Duga S 2013 REVIEW: Congenital factor XI deficiency: an update 23929304
Duncan EM 2008 Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis 18446632
Esteban J 2017 High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study 28960694
Fard-Esfahani P 2008 Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients 18005151
Fokkema I 2019 Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data 31433103
Fujikawa K 1986 Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein 3636155
Gailani D 2001A Factor XI-Asn248: A variant with a platelet binding defect Conference/Suppl Publication
Gailani D 2001B Amino acid substitutions in the Factor XI catalytic domain associated w ith Factor XI deficiency Conference/Suppl Publication
Gailani D 2007 A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect 17229051
Geng Y 2013 Analysis of the factor XI variant Arg184Gly suggests a structural basis for factor IX binding to factor XIa 23617568
Gerdes VEA 2004 Factor XI gene analysis in thrombophilia and factor XI deficiency 15140147
Germanos-Haddad M 2003 Molecular analysis of factor XI deficiency in 8 Lebanese families: identification of two novel mutations Conference/Suppl Publication
Germanos-Haddad M 2005 Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency 15749683
Girolami A 2012 A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy 21999818
Girolami A 2014 A family with factor-XI deficiency due to a compound heterozygosis between Gln 47 Pro (new mutation) in exon 3 and Leu 619 Pro in exon 15 24121361
Gomez K 2008 REVIEW: Factor XI deficiency 18312365
Gueguen P 2012A Biological determinants of bleeding in patients with heterozygous factor XI deficiency 22098495
Gueguen P 2012B Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France) 22159456
Guella I 2008 Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect 18327400
Hancer VS 2018 Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family 28947414
Hancock JF 1991 A molecular genetic study of factor XI deficiency 2018835
Hayashi T 1997 Cross-reacting material positive (CRM+) factor XI deficiency, 'Factor XI Yamagata' with a GT>AT transition at donor splicing site of an intron J of the factor XI gene Conference/Suppl Publication
He R 2012 REVIEW: Factor XI: hemostasis, thrombosis, and antithrombosis 22197449
Hill M 2005 Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion 15953011
Ho DH 2000 Factor XI binding to activated platelets is mediated by residues R(250), K(255), F(260), and Q(263) within the apple 3 domain 10630991
Iijima K 2000 A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain 11122101
Imanaka Y 1995 Identification of two novel mutations in non-Jewish factor XI deficiency 7669672
Ishikawa N 2007 A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients 17581330
Jayandharan G 2005 Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val) 15842381
Jercic K 2020 Congenital factor XI deficiency caused by a novel F11 missense variant: a case report 32118380
Karimi M 2009 Factor XI deficiency in Southern Iran: identification of a novel missense mutation 18758779
Kawaguchi T 2000 A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription 10730000
Kawankar N 2016 Clinical and molecular epidemiology of factor XI deficiency in India 27710856
Keskin EY 2015 Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families 25158988
Kilic SC 2014 Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation 25074526
Kim J 2012 Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect 21668437
Kim J 2013 A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis 23187786
Kravtsov DV 2004 Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain 15026311
Kravtsov DV 2005 A classification system for cross-reactive material-negative factor XI deficiency 15728123
Kulkarni BP 2014 REVIEW: Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review 25275492
Kuroda K 2005 Functional Analysis of Two Recombinant Missense Mutant Factor XI, F221S and C212R Conference/Suppl Publication
Kwon MJ 2008 Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene 18832909
Lee JH 2011 A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency 22016685
Leung PY 2020 A novel F11 mutation in a Chinese paediatric patient with severe factor XI deficiency 32335422
Lin F 2020 Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification 31815744
Lin HY 2020 Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations 32333264
Liu H 2015 Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations 25681615
Liu M 2019 [Identification of compound heterozygous mutations of F11 gene in a pedigree affected with heriditary coagulation factor XI deficiency] 30950027
LOVD 2021 LOVD LOVD
Lunghi B 2012 The F11 rs2289252 polymorphism is associated with FXI activity levels and APTT ratio in women with thrombosis 22633531
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
Martin-Fernandez L 2017 Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis 28445521
Martincic D 1998 Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting 9787168
Mathonnet F 1999 E296K substitution in factor XI deficiency Conference/Suppl Publication
McCarthy ML 2018 Successful perioperative management in a patient with factor XI deficiency 29467123
McMullen BA 1991 Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains 1998667
McVey JH 2005 Characterisation of blood coagulation factor XI T475I 15968392
Meijers JCM 1992A Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency 1547342
Meijers JCM 1992B Apple four in human blood coagulation factor XI mediates dimer formation 1581318
Mitchell M 1999 Heterozygous factor XI deficiency associated with three novel mutations 10606881
Mitchell M 2003 Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography 12716376
Mitchell M 2004 An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients 15226185
Mitchell M 2006 Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations 16835901
Mitchell M 2007 Characterisation of five factor XI mutations 17549289
Mohammed BM 2018 REVIEW: An update on factor XI structure and function 29223926
Morishita E 2003 Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families Conference/Suppl Publication
Mulder R 2013 Identification of a novel factor XI gene mutational event in a Dutch Caucasian family with inherited factor XI deficiency 23494098
Mulder R 2015 A novel c.290G>A mutation in the Factor 11 gene in a Dutch Caucasian family with a Factor XI deficiency 25618263
Neerman-Arbez M 2007 Severe factor XI deficiency in a Jewish child caused by compound heterozygosity for a novel nonsense mutation (Tyr-14X, Exon 2) and the common type II mutation (Glu117X, exon 5). Conference/Suppl Publication
O'Connell NM 2005 Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling 15634276
Ogawa Y 2018 Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency 29713955
Okumura K 2006 Recurrent mutations of factor XI gene in Japanese 16787881
Papagrigoriou E 2006 Crystal structure of the factor XI zymogen reveals a pathway for transactivation 16699514
Peng Y 2020 Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family 31982874
Peretz H 1996 A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency 8807341
Peretz H 1997 The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin 9326232
Peretz H 2013 Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews 23332144
Pugh RE 1995 Six point mutations that cause factor XI deficiency 7888672
Quelin F 2004 Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation 14717969
Quelin F 2005 Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K) 16079124
Quelin F 2006 Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency 16607084
Quelin F 2008 Characterization of combined factor VII and factor XI deficiencies 18248411
Quelin F 2009 Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families 20523169
Ramadan KM 2006 A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient 16905957
Rimoldi V 2018 Molecular investigation of 41 patients affected by coagulation factor XI deficiency 29178608
Rugeri L 2010 Thrombin generation in patients with factor XI deficiency and clinical bleeding risk 20398070
Salomon O 2003 Inherited factor XI deficiency confers no protection against acute myocardial infarction 12871398
Salomon O 2004 REVIEW: New observations on factor XI deficiency 15479396
Sato E 2000 A novel mutation that leads to a congenital factor XI deficiency in a Japanese family 10706758
Sato T 2007 [Factor XI deficiency caused by a mutation of Gly400Val] 17370644
Saunders RE 2005 Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools 16086308
Saunders RE 2009 Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency 19652879
Schmidt AE 2004 Structural role of Gly(193) in serine proteases: investigations of a G555E (GLY193 in chymotrypsin) mutant of blood coagulation factor XI 15090552
Seligsohn U 1978 High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews 647126
Seligsohn U 1994 REVIEW: Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia 7959366
Seligsohn U 2009 REVIEW: Factor XI deficiency in humans 19630775
Shao Y 2016 Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China 27067486
Shirk RA 2000 Nonsense mutation in exon V of the factor XI gene does not abolish platelet factor XI expression 11091186
Shpilberg O 1995 One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews 7811996
Shu K 2018 [Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency] 30098248
Solda G 2005 A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 16330457
Spena S 2009 Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 19718484
Su K 2018 A novel mutation (Tyr503Cys) in a severe factor XI deficiency 29538003
Sun MF 2001 Defective binding of factor XI-N248 to activated human platelets 11418471
Takamiya O 2005 Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region 15996948
Tarumi T 2002 Cloning and characterization of the human factor XI gene promoter: transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha ) is required for hepatocyte-specific expression of factor XI 11891231
Tirefort Y 2012 Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency 22322133
Tiscia GL 2017 Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship 29138690
Tomaiuolo M 2010 Factor XI deficiency: two novel mutations in asymptomatic Italian patients 20491955
Tsukahara A 2003 Compound heterozygosity for two novel mutations in a severe factor XI deficiency 12879434
Vasileiadis I 2009 First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage 19367158
Ventura C 2000 Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families 11127865
Wang J 2009 A case of factor XI deficiency caused by compound heterozygous F11 gene mutation 19347998
Wang Y 2019 A case of a severe factor XI deficiency in a Chinese woman with heavy menorrhagia 30720488
Weng M 2019 [Novel mutations p.Lys327X and p.Leu424CysfsX8 underlying congenital factor ? deficiency] 31400132
Wheeler AP 2016 REVIEW: Why factor XI deficiency is a clinical concern 27216469
Wistinghausen B 1997 Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11 9401068
Wu WM 2003 [Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency] 12697122
Wu WM 2004 [FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency] 15182578
Xia H 2020 [Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency] 32335872
Xie H 2021 A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency 33443931
Xie S 2005 [The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg] 15946525
Xu K 2017 [Analysis on the novel compound heterozygous mutation FXI of a patient with hereditary factor XI deficiency] 29325334
Yang L 2020 Genetic aetiology of early infant deaths in a neonatal intensive care unit 31501239
Ye X 2011 Genetic analysis of a pedigree with combined factor XII and factor XI deficiency 21192253
Zacharski LR 1978 Factor XI (PTA) deficiency in an English-American kindred 580496
Zadra G 2004 Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 15531455
Zadra G 2008 Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians 18387979
Zhang D 2020 Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations 32464451
Zhou X 2019 Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency 31567266
Zivelin A 1999A Identification of 3 novel mutations in the factor XI gene in Jewish patients Conference/Suppl Publication
Zivelin A 1999B Identification of 5 novel factor XI mutations in French Basques Conference/Suppl Publication
Zivelin A 2002 Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene 11895778
Zivelin A 2004 Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation 15456490
Zucker M 2007 Characterization of seven novel mutations causing factor XI deficiency 18024374
Zucker M 2011 Point mutations regarded as missense mutations cause splicing defects in the factor XI gene 21718436