Compound heterozygosity for novel von Willebrand factor genetic variants associated with von Willebrand disease in two Chinese patients.
Blood Coagul Fibrinolysis
; 34(1): 33-39, 2023 Jan 01.
Article
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| MEDLINE
| ID: mdl-36598376
ABSTRACT
BACKGROUND:
Von Willebrand factor (VWF) encodes a secreted glycoprotein involved in primary hemostasis. Genetic mutations in this gene leading to either quantitation or qualitative defects of VWF, result in von Willebrand disease (VWD), an inherited bleeding disorder.METHODS:
In this study, two families with VWD were recruited and submitted to a series of clinical and genetic examinations. prothrombin time, activated partial thromboplastin time, thrombin time, factor VIII coagulant activity (FVIIIC), VWF antigen (VWFAg), VWF ristocetin cofactor (VWFRCo) tests were measured in peripheral blood. F8, F9, and VWF genes were sequenced using next-generation sequencing, and Sanger sequencing was used as a validation method.RESULTS:
Both families had a child suffered spontaneous bleeding. Patient 1 showed normal VWFAg, severely decreased FVIIIC and VWFRCo. Patient 2 showed severely decreased FVIIIC, VWFAg, and VWFRCo. Compound heterozygous mutations of VWF gene were identified in both patients. Patient 1 had a novel deletion variant c.1910_1932del (p.Gly637AlafsTer5) and a missense variant c.605G>A (p.Arg202Gln). Patient 2 had a novel missense variant c.4817T>A (p.Met1606Lys) and a novel missense variant c.5983C>T (p.Pro1995Ser).CONCLUSIONS:
We described clinical and molecular features of VWD caused by compound heterozygous mutations in two Chinese patients. Our results expand the variation spectrum of the VWF gene and deepen the understanding of the relationship between the genotype and clinical characteristics of VWD.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de von Willebrand
/
Hemostáticos
Tipo de estudio:
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Blood Coagul Fibrinolysis
Asunto de la revista:
ANGIOLOGIA
/
HEMATOLOGIA
Año:
2023
Tipo del documento:
Article