Rarer Quantitative and Qualitative Abnormalities of Coagulation

Girolami, Antonio; Marco, L De; Zanon, R. Dal Bo; Patrassi, G; Cappellato, M

doi:10.1016/s0308-2261(21)00481-1

Cited by 56 publications

(1 citation statement)

References 59 publications

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“…F actor V deficiency (FVD) (OMIM 227 400), an autosomal recessive disorder, is a rare hereditary coagulation disorder related to factor V (FV) mutations with a prevalence of one per one million individuals. [1][2][3] The FV gene is located on human chromosome 1q23 and contains 25 exons and 24 introns, and its messenger RNA (mRNA) has 6914 base pairs that encode FV, an inactive protein of 2224 amino acids (OMIM 612309). FV, a high-molecular-weight glycoprotein (330 kDa), consists of 6 domains (A1, A2, B, A3, C1, and C2) and is involved in coagulation by regulating the formation of thrombin.…”

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confidence: 99%

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

Wei

Guo

2021

Journal of Pediatric Hematology/Oncology

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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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confidence: 99%