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

被引：4

作者：

Dong, Rujiao ^{[1
]}

Chen, Guoliang ^{[2
]}

Jin, Yanhui ^{[3
]}

Wang, Mingshan ^{[3
]}

Cheng, Xiaoli ^{[4
]}

Chen, Yi ^{[1
]}

机构：

[1] Wenzhou Med Univ, Dept Hematol, Affiliated Hosp 1, Wenzhou, Peoples R China

[2] Wenzhou Med Univ, Dept Spine Surg, Affiliated Hosp 1, Wenzhou, Peoples R China

[3] Wenzhou Med Univ, Dept Clin Lab, Affiliated Hosp 1, Wenzhou, Peoples R China

[4] Air Force Med Univ, Dept Clin Lab, Affiliated Hosp 1, Xian, Peoples R China

来源：

ACTA HAEMATOLOGICA | 2021年 / 144卷 / 06期

关键词：

Bleeding disorder; F5; Factor V deficiency; Gene mutation; COAGULATION-FACTOR-V; INACTIVATION; REGISTRY;

D O I：

10.1159/000512363

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：712 / 716

页数：5

共 15 条

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