Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (<i>F11</i>) in a Korean Patient with Factor XI Deficiency

Choi, Seung Jun; Kim, Juwon; Lee, Kyung A.; Choi, Jong Rak; Yoo, Jongha

doi:10.3343/alm.2014.34.4.332

Cited by 3 publications

(3 citation statements)

References 19 publications

(33 reference statements)

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“…This missense mutation affects exon 13, which encodes the FXI C-terminal serine protease domain that is important for dissociating the disulfide bond between the Cys482 and Cys362 residues [2]. Thus far, this is the fifth time that the missense mutation p.Cys482Trp has been reported among Asian populations [2,24,25].…”

Section: Discussionmentioning

confidence: 97%

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China

Chen

Wang

et al. 2021

Blood Coagulation &Amp; Fibrinolysis

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Congenital coagulation factor XI (FXI) deficiency is a rare bleeding disorder with a heterogeneous haemorrhagic phenotype and various hotspot gene mutations associated with race and geography. Studies on FXI deficiency in Shaanxi Province, China, are scarce. In this study, seven patients with severe FXI deficiency and several family members were analysed. The International Society on Thrombosis and Hemostasis-Bleeding Assessment Tool (ISTH-BAT) was applied to assess bleeding symptoms. FXI activity was determined using a one-stage method, and the FXI antigen was measured by enzyme-linked immunosorbent assay. Targeted capture next-generation sequencing and Sanger sequencing were applied to detect FXI gene mutations. The bleeding phenotype varied, although none of the participants had a history of spontaneous bleeding. One maternal received replacement therapy during the perinatal period, one female patient presented with menorrhagia, one male patient experienced severe postoperative bleeding and others were asymptomatic. Family members with heterozygous mutations were all asymptomatic. The FXI activity of all the patients ranged from less than 1 to 3.1 IU/dl, and a synchronous decrease in the FXI antigen was observed. Two missense mutations (p. Gly350Glu and p. Cys482Trp), one nonsense mutation (p. Gln384∗) and one novel frameshift mutation (p. Ser225Phefs∗16) were detected. The bleeding manifestations and severity of severe FXI deficiency varied and were not related to its activity. Three reported mutations and one novel frameshift mutation were identified, thus extending the mutation spectrum of FXI deficiency.

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Section: Discussionmentioning

confidence: 97%

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China

Chen

Wang

et al. 2021

Blood Coagulation &Amp; Fibrinolysis

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“…It is a rare bleeding disorder that manifests with different bleeding findings. It is named as "hemophilia C" or "Rosenthal disease" (6). Although the prevalence of FXI deficiency is one in a million, In Ashkenazi Jews, the frequency of heterozygous disease and homozygous disease are 8% and 0.22%, respectively.…”

Section: Discussionmentioning

confidence: 99%

A Rare Seen Hemorrhage Disorder: Factor XI Deficiency Hemophilia C

Özer¹,

Kazancı²,

Sönmezgöz³

et al. 2018

meandros

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“…AVWS was not detectable in any analyzed patient without support. Choi et al 208 We published our evaluation into the differential sensitivity of VWF "activity" assays (VWF:RCo, VWF:CB, VWF:Ab) to large and small VWF molecular weight forms. 211 The data showed that the VWF:CB and VWF:RCo assays had higher sensitivity to the loss of HMW VWF than did the VWF:Ab assay.…”

Section: The Next Decade-the 2010smentioning

confidence: 99%

The Role of the von Willebrand Factor Collagen-Binding Assay (VWF:CB) in the Diagnosis and Treatment of von Willebrand Disease (VWD) and Way Beyond: A Comprehensive 36-Year History

Favaloro

2023

Semin Thromb Hemost

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The von Willebrand factor (VWF) collagen binding (VWF:CB) assay was first reported for use in von Willebrand diagnostics in 1986, by Brown and Bosak. Since then, the VWF:CB has continued to be used to help diagnose von Willebrand disease (VWD) (correctly) and also to help assign the correct subtype, as well as to assist in the monitoring of VWD therapy, especially desmopressin (DDAVP). However, it is important to recognize that the specific value of any VWF:CB is predicated on the use of an optimized VWF:CB, and that not all VWF:CB assays are so optimized. There are some good commercial assays available, but there are also some “not-so-good” commercial assays available, and these may continue to give the VWF:CB “a bad reputation.” In addition to VWD diagnosis and management, the VWF:CB found purpose in a variety of other applications, from assessing ADAMTS13 activity, to investigation into acquired von Willebrand syndrome (especially as associated with use of mechanical circulatory support or cardiac assist devices), to assessment of VWF activity in disease states in where an excess of high-molecular-weight VWF may accumulate, and lead to increased (micro)thrombosis risk (e.g., coronavirus disease 2019, thrombotic thrombocytopenic purpura). The VWF:CB turns 37 in 2023. This review is a celebration of the utility of the VWF:CB over this nearly 40-year history.

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Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency

Cited by 3 publications

References 19 publications

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China

A Rare Seen Hemorrhage Disorder: Factor XI Deficiency Hemophilia C

The Role of the von Willebrand Factor Collagen-Binding Assay (VWF:CB) in the Diagnosis and Treatment of von Willebrand Disease (VWD) and Way Beyond: A Comprehensive 36-Year History

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