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Updated: Mar 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing

Eva Leinøe1, Ove Juul Nielsen1, Lars Jønson2

  • 1Department of Hematology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark;

Cold Spring Harbor Molecular Case Studies
|August 24, 2016
PubMed

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.

Keywords:
acute disseminated intravascular coagulationrecurrent deep vein thrombosis

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