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. |
| References: | Br J Haematol. 2014 Mar;164(6):759-66. (PMID: 24387053) N Engl J Med. 2009 Oct 22;361(17):1676-87. (PMID: 19846853) J Am Soc Nephrol. 2014 Jan;25(1):55-64. (PMID: 24029428) Blood. 2015 Nov 26;126(22):2459-65. (PMID: 26582375) Blood. 2007 Sep 15;110(6):2166-72. (PMID: 17536019) Br J Haematol. 2010 Jan;148(1):37-47. (PMID: 19821824) Nat Biotechnol. 2007 Nov;25(11):1265-75. (PMID: 17989689) Semin Immunopathol. 2014 Jul;36(4):399-420. (PMID: 24526222) Genome Med. 2015 Apr 09;7(1):36. (PMID: 25949529) Hum Mol Genet. 2005 Mar 1;14(5):703-12. (PMID: 15661753) J Thromb Haemost. 2015 Apr;13(4):643-50. (PMID: 25556537) Am J Hematol. 2015 Oct;90(10 ):915-20. (PMID: 26183122) J Thromb Haemost. 2015 Jun;13 Suppl 1:S121-32. (PMID: 26149013) J Am Soc Nephrol. 2006 Jul;17(7):2017-25. (PMID: 16762990) Transfus Med Rev. 2014 Oct;28(4):187-97. (PMID: 25280590) |
| 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 |