Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family
نویسندگان
چکیده
Factor XI (FXI) is a homodimeric serine protease, which is produced in the liver and circulates in the plasma complexed with high-molecular-weight kininogen. FXI plays an important role in the amplification of the initial coagulation response via a positive feedback mechanism for the generation of additional thrombin [1,2,3,4]. Congenital FXI deficiency is characterized by decreased levels or activity of FXI in the plasma and may cause an inherited bleeding disorder. The FXI gene is located on 4q3435 and consists of 15 exons.
منابع مشابه
Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.
Congenital deficiency of factor XI is a rare condition associated with a mild to moderate bleeding diathesis that is most commonly found in persons of Jewish ancestry. The disorder has been reported sporadically in a number of other ethnic groups, but rarely in the black population. We report on the genetic analysis of the factor XI genes of two African American patients: a 9-year-old boy (the ...
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The bleeding disorder associated with factor XI (fXI) deficiency is typically inherited as an autosomal recessive trait. However, some fXI mutations may be associated with dominant disease transmission. FXI is a homodimer, a feature that could allow certain mutations to exert a dominant negative effect on wild type fXI secretion through heterodimer formation. We describe two novel fXI mutations...
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Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency
Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...
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عنوان ژورنال:
دوره 35 شماره
صفحات -
تاریخ انتشار 2018