Fibrinogen Matsumoto IX: FGB and FGG gene splicing mutations In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing
نویسندگان
چکیده
Fumiko Terasawa, Yuka Kamijyo, Noriko Fujihara, Kazuyoshi Yamauchi, Toshiko Kumagai, Takayuki Honda, Satoshi Shigematsu, Nobuo Okumura Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Graduate School of Comprehensive Human Sciences, Majors of Medical Sciences, University of Tsukuba, Tsukuba, 4 Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan
منابع مشابه
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains
Fibrinogen is a highly pleiotropic protein that is involved in the final step of the coagulation cascade, wound healing, inflammation, and angiogenesis. Heterozygous mutations in Aα, Bβ, or γ fibrinogen-chain genes (FGA, FGB, FGG) have been described as being responsible for fibrinogen deficiencies (hypofibrinogenemia, hypo-dysfibrinogenemia, dysfibrinogenemia) and for more rare conditions, suc...
متن کاملPrenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Subsequent analyses revealed that most afibrinogenemia alleles are truncating mutations of FGA, although mut...
متن کاملPrenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, these were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Subsequent analyses revealed that the great majority of afibrinogenemia alleles are truncating mu...
متن کاملDysfibrinogenaemia associated with a novel heterozygous mutation in FGB (c.680delG) and a mild clinical history of bleeding.
Fibrinogen is a hexameric protein composed of Aa, Bb and g chain pairs [1] encoded by three paralogous genes, FGA, FGB and FGG [2]. Fibrinogen variants are the consequence of mutations in FGA, FGB or FGG and may result in afibrinogenaemia, hypofibrinogenaemia, dysfibrinogenaemia or hypodysfibrinogenaemia. Dysfibrinogenaemia is characterized by a fibrinogen structural abnormality responsible for...
متن کاملRunning head: Prenatal Diagnosis for Congenital Afibrinogenemia Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, these were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Subsequent analyses revealed that the great majority of afibrinogenemia alleles are truncating mu...
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