Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients

Park, Chang-Hun; Yoo, Kyung Yeon; Lee, Ki O.; Kim, Sun Hee; Sung, Ki Woong; Kim, Hee Jin

doi:10.3343/alm.2016.36.2.182

Cited by 8 publications

(4 citation statements)

References 7 publications

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“…Two missense variants, c.286G>C and 5030A>G, corresponding to p.Asp96His and Tyr1677Cys, respectively, were identified in the F5 gene. Although the variant c.286G>C had been reported previously, 3 c.5030A>G is a novel variant with no reported disease‐related effects. In case of p.Tyr1677Cys, the reported frequency of the allele is 0.006% in the general population (gnomAD), and it was predicted to be deleterious by in silico analyses (SIFT, PolyPhen‐2, and MutationTaster).…”

Section: Figmentioning

confidence: 81%

A novel mutation of congenital factor V deficiency in Henoch–Schönlein purpura

Shim

Jang

2020

Pediatrics International

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Section: Figmentioning

confidence: 81%

A novel mutation of congenital factor V deficiency in Henoch–Schönlein purpura

Shim

Jang

2020

Pediatrics International

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Section: Discussionmentioning

confidence: 99%

“…Because of the large size of F5 and lack of mutational hotspots, most FVD-causing mutations are considered as unique and segregated to a specific family or region. To our knowledge, p.Asp96His has been reported only in Taiwan [15,16,18], China [28,29], and Korea [30], whereas p. Gly420Cys has been identified in Taiwan [14], China [31,32], Japan [33] Seven of the genetic variants associated with FVD identified in our study have been previously described in the literature, including p.Asp2222Gly [18,24,25], p.Asp96His [15,16,18], p.Gly420Cys [14,[31][32][33], p.His175Arg [15], p. Tyr558Ser [34], p.Gln2059 Ã [35], and p.Arg2102Cys [15,36]. We previously reported the functional and molecular characteristics of the variants p.Asp96His [16] and p. His175Arg [15].…”

Section: Discussionmentioning

confidence: 99%

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813∗ and two variants specific to East Asians

Lin

Kuo

et al. 2022

Blood Coagulation &Amp; Fibrinolysis

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Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enrolled in this study. The factor V coagulant activity was determined using a one-stage prothrombin time-based test. The factor V antigen level was measured in an ELISA. Sanger sequencing was performed for genetic analyses of F5, the gene responsible for the disease. One novel and de novo F5 genetic variant, p.Tyr1813∗, was identified. Based on the presence of a premature termination codon with a resultant truncated factor V-protein lacking an intact light chain fragment, the variant is pathogenic. In addition, we identified seven variants previously found to cause FVD. Among them, p.Gly420Cys and p.Asp96His were repeatedly detected in five and four patients, respectively. Both variants are found to be specific to the East Asian populations. Various FVD-associated bleeding manifestations were observed, predominantly mucocutaneous bleeding and hypermenorrhea. All patients exhibited very low factor V coagulant activity (<1–2.5 IU/dl, reference range: 60–133 IU/dl). The factor V antigen level was less than 2% in six patients (reference range: 75–157%). The novel F5 genetic variant p.Tyr1813∗ and two distinct, East Asians-specific, recurrent variants p.Gly420Cys and p.Asp96His were identified among seven index patients with FVD in Taiwan. Our clinical and laboratory findings support the reported features of FVD.

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“…Her mother had prolonged PT and reduced FV activity but was asymptomatic, even though she also carried a heterozygous F5 c.286G>C (p.Asp96His) mutation. 4 Similarly, in our study, the proband suffered from hematuria and carried a heterozygous c.5492T>C (p.Leu1831Pro) mutation in the F5 gene, which was also found in other family members with decreased FV activity.…”

mentioning

confidence: 87%