目的 分析Bernard-Soulier综合征（BSS）的临床及遗传学特征。方法 回顾分析1例确诊为BSS患儿 的临床和分子遗传学检测资料。结果 患儿，男，5岁，自新生儿期就出现血小板计数减少，平时血小板计数维持在 （25 ~ 40）×109 /L。丙种球蛋白与激素治疗效果不佳。血小板膜糖蛋白Ⅰbα（GPⅠbα）表达水平为42.4%，显著低 于正常水平。全外显子测序检测到患儿GP 1 BA基因存在2处变异，c. 987 G>A和c. 523 _ 525 delAAC，经Sanger家系验 证变异分别来源于父母，构成复合杂合变异。结论 c.523_525delAAC 变异位点尚未见报道，拓展了BSS基因变异谱。

Objective To analyze the clinical characteristics and genetic etiology of a case of Bernard-Soulier syndrome. Methods The clinical and molecular genetic data of a child diagnosed with BSS were reviewed. Results The patient was a 5 -year-old boy. Thrombocytopenia occurred in the newborn period, and the platelet count was maintained at ( 25 ~ 40 ) × 109 /L. Gamma globulin and hormone therapy were not effective. The expression level of platelet membrane glycoproteinⅠbα(GPⅠbα) was 42.4%, which was significantly lower than normal level. Whole exome sequencing detected two variations in the GP 1 BA gene of the child, c. 987 G>A and c. 523 _ 525 delAAC. The Sanger family verified that the variations were derived from their parents respectively and constituted a compound heterozygous variant. Conclusion The variation site of c.523 _ 525 delAAC has not been reported, which expands the BSS gene variation spectrum.