Congenital factor XI deficiency caused by a novel F11 missense variant: a case report
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چکیده
منابع مشابه
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
متن کاملCys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
Dear Editor, Coagulation factor XI (FXI) is a member of the “contact pathway” and is activated either intrinsically by coagulation factor XII (FXII) or by thrombin, which is produced by an extrinsic pathway and plays an important role in hemostasis [1]. Factor XI deficiency, also known as hemophilia C, is a predominantly autosomal recessive genetic bleeding disorder that was first reported in 1...
متن کاملDominant Factor XI Deficiency Caused by Mutations in the Factor XI Catalytic Domain Running title: Autosomal dominant factor XI deficiency
(2497 articles) Hemostasis, Thrombosis, and Vascular Biology (1597 articles) Free Research Articles (3667 articles) Clinical Trials and Observations Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests Information about reproducing this article in parts or in its entirety may be found ...
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Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. Th...
متن کاملDominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi Jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients...
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ژورنال
عنوان ژورنال: Croatian Medical Journal
سال: 2020
ISSN: 0353-9504,1332-8166
DOI: 10.3325/cmj.2020.61.62