A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Hereditas
; 161(1): 9, 2024 Feb 20.
Article
en En
| MEDLINE
| ID: mdl-38374144
ABSTRACT
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the FGG gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fibrinógeno
/
Afibrinogenemia
/
Pueblo Asiatico
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Hereditas
Año:
2024
Tipo del documento:
Article
País de afiliación:
China