Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Acta Haematol. 2022;145(1):78-83. doi: 10.1159/000517050. Epub 2021 Aug 17.
The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann's thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Whole-exome sequencing showed a c.1784-1802delinsGTCACA, p. S595Cfs70 homozygous mutation in exon 11 of the ITGB3 gene in the proband. Heterozygous mutations were found in the proband's parents, grandmother, uncle, aunt, and younger brother. This novel p. S595Cfs70 ITGB3 gene mutation is not present in the 1000 Genomes and ExAC databases.
本研究旨在阐明一个中国 Glanzmann 血小板无力症（GT）家系的分子特征。先证者根据临床表现、血小板聚集和血小板 CD41 和 CD61 的表达诊断为 GT。对先证者及其家系成员进行全外显子组和 Sanger 测序，以检测与 GT 相关的遗传缺陷。全外显子组测序显示先证者 ITGB3 基因第 11 外显子 c.1784-1802delinsGTCACA，p. S595Cfs70 纯合突变。先证者的父母、祖母、叔叔、阿姨和弟弟均存在杂合突变。该 novel p. S595Cfs70 ITGB3 基因突变未出现在 1000 Genomes 和 ExAC 数据库中。
