دورية أكاديمية
Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1.
العنوان: | Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1. |
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المؤلفون: | Leinøe E; Department of Hematology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark;, Nielsen OJ; Department of Hematology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark;, Jønson L; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark. |
المصدر: | Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2016 Jul; Vol. 2 (4), pp. a000828. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Print Cited Medium: Print ISSN: 2373-2873 (Print) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: PubMed not MEDLINE |
أسماء مطبوعة: | Original Publication: [Cold Spring Harbor, NY] : Cold Spring Harbor Laboratory Press, [2015]- |
مستخلص: | The increasing availability of genome-wide analysis has made it possible to rapidly sequence the exome of patients with undiagnosed or unresolved medical conditions. Here, we present the case of a 64-yr-old male patient with schistocytes in the peripheral blood smear and a complex and life-threatening coagulation disorder causing recurrent venous thromboembolic events, severe thrombocytopenia, and subdural hematomas. Whole-exome sequencing revealed a frameshift mutation (C3AR1 c.355-356dup, p.Asp119Alafs*19) resulting in a premature stop codon in C3AR1 (Complement Component 3a Receptor 1). Based on this finding, atypical hemolytic uremic syndrome was suspected because of a genetic predisposition, and a targeted treatment regime with eculizumab was initiated. Life-threatening hemostatic abnormalities would most likely have persisted had it not been for the implementation of whole-exome sequencing in this particular clinical setting. |
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فهرسة مساهمة: | Keywords: acute disseminated intravascular coagulation; recurrent deep vein thrombosis |
تواريخ الأحداث: | Date Created: 20160824 Date Completed: 20160823 Latest Revision: 20181113 |
رمز التحديث: | 20221213 |
مُعرف محوري في PubMed: | PMC4990812 |
DOI: | 10.1101/mcs.a000828 |
PMID: | 27551680 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2373-2873 |
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DOI: | 10.1101/mcs.a000828 |