A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report

Weidmann H et al (2017) The plasma contact system, a protease cascade at the nexus of inflammation, coagulation and immunity. Biochim Biophys Acta Mol Cell Res 1864:2118–2127

Article  CAS  PubMed  Google Scholar 

Renné T, Gailani D (2007) Role of factor XII in hemostasis and thrombosis: clinical implications. Expert Rev Cardiovasc Ther 5:733–741

Article  PubMed  Google Scholar 

Maas C, Renné T (2018) Coagulation factor XII in thrombosis and inflammation. Blood 131:1903–1909

Article  CAS  PubMed  Google Scholar 

Nickel KF, Long AT, Fuchs TA, Butler LM, Renné T (2017) Factor XII as a therapeutic target in thromboembolic and inflammatory diseases. Arterioscler Thromb Vasc Biol 37:13–20

Article  CAS  PubMed  Google Scholar 

Azaad MA, Zhang Q, Li Y (2015) Factor XII (Hageman factor) deficiency: a very rare coagulation disorder. Open J Blood Dis 5(04):39

Article  CAS  Google Scholar 

Li Z, Lou J, Li W, Chen L (2022) A newly detected c. 180+ 1G> A variant causes a decrease of FGA transcription in patients with congenital hypo-dysfibrinogenemia. Journal of Hematopathology. 15(4):259–63

Article  Google Scholar 

Tjärnlund-Wolf A, Lassila R (2019) Phenotypic characterization of haemophilia B - understanding the underlying biology of coagulation factor IX. Haemophilia 25:567–574

Article  PubMed  Google Scholar 

Lämmle B et al (1991) Thromboembolism and bleeding tendency in congenital factor XII deficiency–a study on 74 subjects from 14 Swiss families. Thromb Haemost 65:117–121

Article  PubMed  Google Scholar 

Bachler M et al (2019) Influence of factor XII deficiency on activated partial thromboplastin time (aPTT) in critically ill patients. J Thromb Thrombolysis 48:466–474

Article  CAS  PubMed  PubMed Central  Google Scholar 

Renné T et al (2005) Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 202:271–281

Article  PubMed  PubMed Central  Google Scholar 

Yoshida K et al (2020) Global cerebral infarction after aortic arch replacement surgery in a patient with postoperatively revealed factor XII deficiency: a case report. J Med Case Rep 14:150

Article  PubMed  PubMed Central  Google Scholar 

Suzuki K, Murai K, Suwabe A, Ishida Y (2010) Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. Thromb Res 125:438–443

Article  CAS  PubMed  Google Scholar 

Okamura T et al (2017) Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. Thromb Haemost 86:1409–1415

Google Scholar 

Lombardi AM et al (2008) Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes. Blood Coagul Fibrinolysis 19:639–643

Article  CAS  PubMed  Google Scholar 

Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Schmaier AH, Stavrou EX (2019) Factor XII – what’s important but not commonly thought about. Res Pract Thrombosis Haemostas 3:599–606

Article  CAS  Google Scholar 

Xu F, Qin L, Zou A, Hou L, Wang M, Chen B (2024) Clinical and genetic spectrum of factor XII deficiency in the Han population of East China. Orphanet J. Rare Dis. 19(1)

Fang S, Yang J, Zhang X, Yang L, Wang G (2023) Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor XII deficiency. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40:429–434

PubMed  Google Scholar 

Jiang S et al (2022) A Novel Homozygous missense mutation (Ile583Asn) in a consanguineous marriage family with hereditary factor XII deficiency: a case report. Hamostaseologie 43:142–145

PubMed  Google Scholar 

Kwon M-J, Kim H-J, Lee K-O, Jung CW, Kim S-H (2010) Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. Blood Coag Fibrinol 21:308–312

Article  CAS  Google Scholar 

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