GP1BA基因复合杂合变异致Bernard-Soulier综合征1例报告  

Bernard-Soulier syndrome caused by compound heterozygous variations of GP1BA gene:a case report

作　　者：王燕 沈笛颖[1] 张晶樱[1] 余金丹[1] WANG Yan;SHEN Diying;ZHANG Jingying;YU Jindan(The Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,National Children's Regional Medical Center,Hangzhou 310000,Zhejiang,China)

机构地区：[1]浙江大学医学院附属儿童医院,国家儿童健康与疾病临床医学研究中心,国家儿童区域医疗中心,浙江杭州310000

出　　处：《临床儿科杂志》2022年第1期63-66,共4页Journal of Clinical Pediatrics

摘　　要：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)×10^(9)/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 1BA基因存在2处变异,c.987G>A和c.523_525delAAC,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)×10^(9)/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 GP1BA gene of the child,c.987G>A and c.523_525delAAC.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_525delAAC has not been reported,which expands the BSS gene variation spectrum.

关 键 词：血小板减少 Bernard-Soulier综合征 二代测序 GP 1BA基因 

分 类 号：R725.5[医药卫生—儿科]