A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Hereditas
; 161(1): 9, 2024 Feb 20.
Article
em 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.
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MEDLINE
Assunto principal:
Fibrinogênio
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Afibrinogenemia
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Povo Asiático
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article