Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency | Zendy

Rujiao Dong | Zendy; Guoliang Chen | Zendy; Yanhui Jin | Zendy; Mingshan Wang | Zendy; Xiaoli Cheng | Zendy; Yi Chen | Zendy

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Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency

Author(s) -

Rujiao Dong,

Guoliang Chen,

Yanhui Jin,

Mingshan Wang,

Xiaoli Cheng,

Yi Chen

Publication year - 2021

Publication title -

acta haematologica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.574

H-Index - 56

eISSN - 1421-9662

pISSN - 0001-5792

DOI - 10.1159/000512363

Subject(s) - proband , mutation , genetics , gene , microbiology and biotechnology , biology , factor v , compound heterozygosity , medicine , thrombosis

Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by F5 gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families with hereditary FV deficiency. The FV activity (FV:C) and FV antigen (FV:Ag) were measured by clotting and ELISA, respectively. The F5 gene and sequence conservation were analyzed by direct sequencing and ClustalX-2.1-win, respectively. One proband carried a homozygous p.Phe218Ser (c.653T>C) mutation, with FV:C and FV:Ag decreased to 11 and 14%, respectively. The other proband carried a heterozygous p.Gly304Glu (c.911G>A) mutation, with FV:C and FV:Ag reduced to 55 and 62%, respectively. Phe218 and Gly304 were highly conserved in the homologous gene in 9 other species. We hypothesized that the p.Phe218Ser and p.Gly304Glu variants are deleterious and responsible for the reduction in FV:C and FV:Ag.

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