Fibrinogen Milano XIII (Aα 19 Arg→Gly)

Bolliger-Stucki, Bettina; Bucciarelli, Paolo; Lämmle, Bernhard; Furlan, Miha

doi:10.1016/s0049-3848(99)00128-0

Cited by 3 publications

(1 citation statement)

References 16 publications

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“…[ 4 ] As other review reported, the sequence 17 Gly-18 Pro-19 Arg of fibrin α-chain binds to the complementary polymerization pocket in the γ-chain, which is responsible for the formation of the fibrin gel network. [ 11 ] In this paper, FGA P. Arg38Thr mutation cause delayed polymerization of Aα chains and alterations in binding to the D domain of another γ chain, but patients in this pedigree are asymptomatic. Different mutation sites may lead to different or same pathogenesis and clinical manifestations, for example, AαArg16Ser and Arg16Cys mutation may result in abnormal protofibril assembly and disrupt E:D domain interactions [ 12 ] ; however, different patient would suffer from asymptomatic, bleeding, or thrombosis.…”

Section: Discussionmentioning

confidence: 97%

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation

Cai

Wang

et al. 2018

Medicine

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Rationale:Congenital dysfibrinogenemia (CD) is characterized by altered functional properties of the fibrinogen; people who suffer from CD often have a low activity of fibrinogen and the mutation in the genomic DNA.Patient concerns:A 6-year-old child was examined with a low activity of fibrinogen measured by Von Clauss method and PT-derived method which indicated a normal level of fibrinogen; this abnormality was also detected in her mother. The genomic DNA of all the family members was extracted, and all exons of 3 fibrinogen genes which encode fibrinogen alpha chain (FGA), fibrinogen beta chain (FGB), and fibrinogen gamma chain (FGG) were amplified by polymerase chain reaction (PCR), in addition, sanger sequencing, homologous sequence alignment and bioinformatics software were performed for the further analysis.Diagnoses:CD in this pedigree is associated with c.113G>C in the exon 2 of FGA which caused Arg38Thr mutation.Outcomes:The child and her mother showed a low plasma concentration of fibrinogen measured by Von Clauss method, whereas a normal result measured by PT-derived method; finally, c.113G>C in the exon 2 of FGA was detected in the pedigree which caused Arg38Thr mutation and it is the first report on a pedigree with CD caused by AαArg38Thr.Lessons:This case gives us the lesson that not all patients with CD showed typical symptoms and laboratory test results; the result of fibrinogen concentration and antigen which is tested by Von Clauss method and immunoturbidimetric assay is various according to the condition of each CD patient.

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Section: Discussionmentioning

confidence: 97%

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation

Cai

Wang

et al. 2018

Medicine

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Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Asselta

Robusto

Platé

et al. 2015

Thrombosis Research

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Fibrinogen geneva II

Casini

Maistre²,

Casini-Stuppi³

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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Congenital dysfibrinogenemias are characterized by biosynthesis of a structurally abnormal fibrinogen molecule that exhibits reduced functional levels compared with the level of fibrinogen antigen. To date a large number of mutations have been identified in patients with dysfibrinogenemia. Mutations occurring at the thrombin cleavage site (Arg16-Gly17 in the mature alpha-chain) at the amino-terminal end of the fibrinogen alpha chain are a common cause of the disease. These mutations causing abnormal fibrin polymerization are associated with different phenotypes. Here, we report the identification of a novel heterozygous missense mutation of Glycine 17 (Gly17Asp) in a female patient with mild bleeding manifestations, and compare it with other previously reported mutations also resulting in abnormal knob A.

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Fibrinogen Milano XIII (Aα 19 Arg→Gly)

Cited by 3 publications

References 16 publications

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Fibrinogen geneva II

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