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Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency - PubMed

️Sat Jan 01 2022

Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency

Yanhui Wei et al. J Pediatr Hematol Oncol. 2022.

Abstract

Objective: The aim was to investigate the clinical characteristics and molecular pathogenic mechanism of twins with congenital factor V (FV) deficiency.

Methods: We comprehensively analyzed the clinical manifestations and laboratory test results of a set of twins and their parents and performed point mutation analysis with direct high-throughput exon sequencing.

Results: The prothrombin time and activated partial thromboplastin time were prolonged for both probands, and the FV activity levels were 13.0% and 9.8%. Next-generation sequencing showed that the affected individuals harbored a paternal c.5113A>C (p.S1705R) and a maternal c.4949C>T (p.A1650V) heterozygous variants in the FV gene, which conformed to an autosomal recessive inheritance pattern. This is the first report of these point mutations. The older boy also had a congenital patent foramen ovale.

Conclusion: In this set of twins, missense mutations of the FV gene were related to congenital FV deficiency but unrelated to the patent foramen ovale observed in the older boy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

**FIGURE 1**
Schematic diagram of the patient mutation site in Fasta format as shown by next-generation sequencing.

**FIGURE 2**
Interaction between residue 1705 and surrounding residues in wild-type FV (A and B) and the S1705R variant (C and D).

**FIGURE 3**
Interaction between residue 1650 and surrounding residues in wild-type FV (A and B) and the A1650V variant (C and D).

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References

1. Lippi G, Favaloro EJ, Montagnana M, et al. . Inherited and acquired factor V deficiency. Blood Coagul Fibrin. 2011;22:160–166. - PubMed
1. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood. 2004;104:1243–1252. - PubMed
1. Girolami A, Marco LD, Zanon RDB, et al. . Rarer quantitative and qualitative abnormalities of coagulation. Clin Haematology. 1985;14:385–411. - PubMed
1. Huang JN, Koerper MA. Factor V deficiency: a concise review. Haemophilia. 2008;14:1164–1169. - PubMed
1. Asselta R, Tenchini ML, Duga S. Inherited defects of coagulation factor V: the hemorrhagic side. J Thromb Haemost. 2006;4:26–34. - PubMed

Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency - PubMed