a Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health , The First Affiliated Hospital of Soochow University , Suzhou , China.
b Collaborative Innovation Center of Hematology, Soochow University , Suzhou , China.
Platelets. 2018 May;29(3):288-291. doi: 10.1080/09537104.2017.1306041. Epub 2017 May 15.
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C>A) of NBEAL2 gene (g.NG__031914.1) resulting in a premature protein (p.Glu1726*). In comparison with the reported patients, we conclude that homozygotes with nonsense or deletion mutation leading to a premature stop codon exhibit more serious bleeding problem than those with missense mutations.
格雷血小板综合征（GPS）是一种罕见的遗传性出血性疾病，其特征为血小板α颗粒缺陷。迄今为止，仅有四项研究确定了与 GPS 相关的 NBEAL2 基因。在本报告中，我们介绍了一位中国 GPS 患者，其具有严重的出血倾向、血小板功能异常和血小板α颗粒缺失。对患者的基因组 DNA 测序鉴定出 NBEAL2 基因（g.NG__031914.1）的无义突变（g.27713C>A），导致提前出现终止密码子（p.Glu1726*）。与已报道的患者相比，我们得出结论，导致提前出现终止密码子的无义或缺失突变的纯合子比错义突变的纯合子表现出更严重的出血问题。
