Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency-Reference-Cited by-同舟云学术

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

Published:2021 Issue:6 Volume:144 Page:712-716
ISSN:0001-5792
Container-title:Acta Haematologica
language:en
Short-container-title:Acta Haematol

Author:

Dong Rujiao,Chen Guoliang,Jin Yanhui,Wang Mingshan,Cheng Xiaoli,Chen Yi

Abstract

Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by <i>F5</i> 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 <i>F5</i> 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.

Publisher

S. Karger AG

Subject

Hematology,General Medicine

Reference11 articles.

1. Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry. 1992 Apr 21;31(15):3777–85.

2. Lippi G, Favaloro EJ, Montagnana M, Manzato F, Guidi GC, Franchini M. Inherited and acquired factor V deficiency. Blood Coagul Fibrinolysis. 2011 Apr;22(3):160–6.

3. Nicolaes GA, Tans G, Thomassen MC, Hemker HC, Pabinger I, Varadi K, et al. Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem. 1995 Sep 8;270(36):21158–66.

4. Naderi M, Tabibian S, Alizadeh S, Hosseini S, Zaker F, Bamedi T, et al. Congenital factor V deficiency: comparison of the severity of clinical presentations among patients with rare bleeding disorders. Acta Haematol. 2015;133(2):148–54.

5. Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol. 1998 Dec;103(4):1067–9.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*);Blood Cells, Molecules, and Diseases;2024-01

2. Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency;Hämostaseologie;2023-09-15

3. Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations;Hämostaseologie;2023-06-15