Körholz Julia, Lucas Nadja, Boiti Franziska, Althaus Karina, Tiebel Oliver, Fang Mingyan, Berner Reinhard, Lee-Kirsch Min Ae, Knöfler Ralf
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Institute for Transfusion Medicine, University Hospital Tübingen, University of Tübingen, Tübingen, Germany.
TH Open. 2020 Dec 25;4(4):e413-e416. doi: 10.1055/s-0040-1718910. eCollection 2020 Oct.
Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), underlie a recently described platelet signal transduction abnormality. Here we present the case of a consanguineous family originating from Afghanistan with two siblings affected by recurrent severe mucocutaneous bleedings. Platelet function testing demonstrated a marked reduction of aggregation induced by collagen and adenosine diphosphate. Whole exome sequencing revealed a novel homozygous nonsense mutation segregating with the bleeding disorder in the family.
下一代测序技术在出血性疾病患者的诊断检查中应用越来越广泛，有助于诊断罕见的出血性疾病，如遗传性血小板功能障碍。RAS鸟苷释放蛋白2（RasGRP2），也称为钙和二酰基甘油调节的鸟嘌呤核苷酸交换因子I（CalDAG-GEFI）的突变，是最近描述的血小板信号转导异常的基础。在此，我们报告了一个来自阿富汗的近亲家庭的病例，该家庭中有两个兄弟姐妹反复出现严重的皮肤黏膜出血。血小板功能测试显示，胶原蛋白和二磷酸腺苷诱导的聚集明显减少。全外显子组测序揭示了一个新的纯合无义突变，该突变与该家族的出血性疾病相关。
