Zhu Qiao, Jin Keqin, Fu Congcong, Feng Wenwen, Liu Hejin, Chen Zihui, Wang Huiqin, Gao Yuan
Altern Ther Health Med. 2024 Sep;30(9):152-156.
The objective of this study was to investigate the clinical phenotype and genetic etiology of Glanzmann's thrombasthenia in a consanguineous pedigree.
Clinical data and ancillary test results were collected from pedigrees with Glanzmann's thrombasthenia. High-throughput sequencing was used to detect variants in the proband. Candidate variants were verified by Sanger sequencing.
Two patients in the pedigree were homozygous for the c.2248C>T (p. Arg750Ter) variant of the ITGB3 gene. The parents and maternal grandmother, who didn't have any recurrent haemorrhage, were found to carry a heterozygous c.2248C>T variant of the ITGB3 gene, which was absent in the aunt and paternal grandmother.
The homozygous variant c.2248C>T (p. Arg750Ter) in the ITGB3 gene underlies the disease in this pedigree. This diagnosis will facilitate genetic counselling in this pedigree for better patient management and life guidance.
本研究旨在调查一个近亲家系中Glanzmann血小板无力症的临床表型和遗传病因。
收集患有Glanzmann血小板无力症家系的临床资料和辅助检查结果。采用高通量测序检测先证者中的变异。候选变异通过Sanger测序进行验证。
该家系中的两名患者ITGB3基因的c.2248C>T（p.Arg750Ter）变异呈纯合状态。未出现反复出血的父母和外祖母被发现携带ITGB3基因的杂合c.2248C>T变异，而姑姑和祖母中不存在该变异。
ITGB3基因中的纯合变异c.2248C>T（p.Arg750Ter）是该家系疾病的基础。这一诊断将有助于该家系的遗传咨询，以更好地管理患者并提供生活指导。
