Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, People's Republic of China.
Department of Neonatology, Children's Hospital of Soochow University, Suzhou, People's Republic of China.
Hematology. 2024 Dec;29(1):2334642. doi: 10.1080/16078454.2024.2334642. Epub 2024 Apr 2.
Bernard-Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets.
For more than 6 years, we misdiagnosed a patient with BSS without an obvious bleeding tendency as having idiopathic thrombocytopenia purpura (ITP), prior to obtaining a genetic analysis. On admission, routine hematology showed a platelet count of 30 × 10/L and mean platelet volume (MPV) of 14.0 fL.
Whole-exome sequencing revealed two likely pathogenic heterozygous mutations (c.95_101del and c.1012del) in . Flow cytometry analysis of platelet membrane glycoproteins indicated that the expression of GP1b was 0.28% of the normal level. Platelet aggregation tests indicated that platelet aggregation was inhibited by ristocetin- (1.7%), ADP- (14.5%), and arachidonic acid- (5.6%) induced platelet aggregation. A literature review identified reports on 53 mutations in the gene in 253 patients, 29 mutations in the gene in 90 patients, and 32 mutations in the gene in 114 patients.
This case report describes two novel gene mutation sites that have not been reported previously, enriching understanding of the mutation spectrum.
伯纳德-苏利耶综合征（BSS）是一种罕见的遗传性巨血小板减少症，通常为常染色体隐性遗传，其特征为出血时间延长、血小板减少和血小板异常增大。
在进行基因分析之前，我们将一名无明显出血倾向的 BSS 患者误诊为特发性血小板减少性紫癜（ITP），误诊时间超过 6 年。入院时，常规血液学检查显示血小板计数为 30×10/L，血小板平均体积（MPV）为 14.0 fL。
全外显子组测序显示. 血小板膜糖蛋白的流式细胞术分析表明，GP1b 的表达水平仅为正常水平的 0.28%。血小板聚集试验表明，血小板聚集受瑞斯托霉素诱导（1.7%）、ADP 诱导（14.5%）和花生四烯酸诱导（5.6%）的抑制。文献复习共发现 253 例患者. 基因中有 53 个突变，90 例患者. 基因中有 29 个突变，114 例患者. 基因中有 32 个突变。
本病例报告描述了两个以前未报道过的新基因突变位点，丰富了对 基因突变谱的认识。
