Abstract Number: VPB1249
Meeting: ISTH 2022 Congress
Background: Platelet function is closely related to platelet membrane, platelet storage granules, platelet signal transduction and platelet coagulation activity. RASGRP2 defect can lead to platelet dysfunction. In this study, we found a case of bleeding caused by platelet dysfunction caused by a new mutation of RASGRP2 gene, and analyzed its family.
Aims: To investigate the clinical characteristics of a case of Inherited platelet function disorders (IPFD) caused by dual site mutation of RASGRP2 gene, and to analyze the molecular pathogenesis of IPFD, so as to provide evidence for early diagnosis and treatment of IPFD.
Methods: A case of epistaxis with hemorrhagic anemia in the Affiliated Hospital of Guizhou Medical University was selected. Through the analysis of clinical manifestations, laboratory examination and treatment process, high-throughput sequencing technology was used to detect pathogenic genes to find out the cause, and the clinical characteristics and gene sequencing results of his family were retrospectively analyzed.
Results: The results of high-throughput sequencing showed that there were double heterozygous mutations of RASGRP2 gene on chromosome 11 in children. The father detected the mutation at the same site as the RASGRP2 gene of the child; Mother also detected the mutation at the same site of RASGRP2 gene and was a heterozygous carrier. RASGRP2 gene mutation was detected in both (maternal) grandma and (paternal) grandma related mutant genes were detected in children’s grandfathers, grandfathers, aunts 1 and 2.
Conclusion(s): The double heterozygosity mutation at position 6497534 [C.1545c > a, P.515c > x] and position 64509585 [C.74-1g > c] is a new mutation that has not been reported, enriching the mutation spectrum of IPFD gene. The defect of RASGRP2 can affect the function of platelet aggregation and adhesion, leading to hemorrhagic diseases. High-throughput sequencing can diagnose this kind of complicated hemorrhagic diseases more accurately and effectively, and improve clinicians’ understanding of IPFD.
To cite this abstract in AMA style:BIAN Q, YANG X, WANG D, ZHOU X. A case report of Inherited platelet function disorders caused by double site mutation of RASGRP2 gene and pedigree analysis [abstract]. https://abstracts.isth.org/abstract/a-case-report-of-inherited-platelet-function-disorders-caused-by-double-site-mutation-of-rasgrp2-gene-and-pedigree-analysis/. Accessed November 30, 2023.
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