Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency.
نویسندگان
چکیده
Due to a homozygous Gly204Arg mutation in the factor X (FX) gene no detectable FX antigen was found in the plasma of a one-year old patient with severe bleeding diathesis. The amino acid replacement destabilized the disulfide bond that holds the two FX chains together, decreasing the interaction between the Cys201-Cys206 loop region and the region connecting the EGF2 and serine protease domains. Both Gly204 FX and Arg204 FX were synthesized in transfected cells, but only the wild type protein became secreted. The mutant protein was diverted from the normal secretory pathway and retained at the trans Golgi-late endosome level.
منابع مشابه
Recurrent Venous Thromboembolic Events in a Child with Severe Factor X Deficiency
Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.
متن کاملFunctional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-like Domain of Factor VII
Background: Coagulation Factor VII is a vitamin K-dependent serine protease which has a pivotal role in the initiation of the coagulation cascade. The congenital Factor VII deficiency is a recessive hemorrhagic disorder that occurs due to mutations of F7 gene. In the present study C91S (p.C91S) substitution was detected in a patient with FVII deficiency. This mutation has not b...
متن کاملA case report of temporary and acquired vitamin K-dependent clotting factor deficiency without any response to administrated vitamin K
Abstract Background and Objectives Vitamin K-dependent clotting factor deficiency (VKCFD) is usually an acquired problem due to liver disease, malabsorption, and overdose of warfarin. In the present paper the significance and role of vitamin K-dependent coagulation factors in menorrhagia were evaluated. Case We present a rare case of 43 year woman with acquired vitamin K deficiency and se...
متن کاملGenotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
متن کاملFactor XIII deficiency: a review of literature
Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Haematologica
دوره 93 2 شماره
صفحات -
تاریخ انتشار 2008