PO096 | IDENTIFICATION OF A NEW VARIANT IN THE RASGRP2 GENE IN A CHILD WITH SUSPECTED GLANZMANN THROMBASTHENIA
Abstract
Introduction. Congenital platelet disorders constitute a heterogeneous group of primary hemostatic defects that are often difficult to diagnose without an integrated approach that includes functional testing. We report the case of a child with suspected Glanzmann thrombasthenia, in whom a novel variant of the RasGRP2 gene (NM_001098671.2) was identified that cosegregates with the clinical phenotype. Methods. An 8-year-old boy, presenting with recurrent epistaxis and bruising and without a significant family history, was evaluated at our center. Initial tests showed normal PT and aPTT and impaired platelet function (PFA-100), suggesting a platelet disorder such as Glanzmann’s thrombasthenia. However, the absence of aggregation tests and flow cytometric analysis prevented a definitive differential diagnosis. To identify the genetic cause and confirm the suspected diagnosis, clinical exome sequencing (6,600 genes) was performed using the NextSeq 550 platform (Illumina). Bioinformatic analysis included filtering based on allele frequency (
Related
- Severe iron-deficiency anemia and recurrent mucosal bleeding revealing Glanzmann thrombasthenia in a young adult: a case report
- Clinical and economic impact of rFVIIa prophylaxis in Glanzmann thrombasthenia: cohort analysis in Saudi Arabia.
- Two novel missense variants altering cytosolic phospholipase A2α structural dynamics partially affect platelet signaling pathways associated with bleeding among Glanzmann thrombasthenia patients from two unrelated south Indian families
- PO084 | BRIDGING THE CLINICAL CHASM: GENETIC ANALYSIS AS A CONFIRMATORY TOOL IN MISMATCHED GLANZMANN THROMBASTHENIA
- CO006 | PREVALENCE OF GASTROINTESTINAL BLEEDING IN GLANZMANN THROMBASTHENIA PATIENTS: RESULTS OF A WORLDWIDE SURVEY
BibTeX
@article{ariano2026po096,
title = {{PO096 | IDENTIFICATION OF A NEW VARIANT IN THE RASGRP2 GENE IN A CHILD WITH SUSPECTED GLANZMANN THROMBASTHENIA}},
author = {Anastasia Ariano},
journal = {Bleeding, Thrombosis and Vascular Biology},
year = {2026},
month = oct,
url = {https://www.btvb.org/btvb/article/view/912},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - PO096 | IDENTIFICATION OF A NEW VARIANT IN THE RASGRP2 GENE IN A CHILD WITH SUSPECTED GLANZMANN THROMBASTHENIA
AU - Anastasia Ariano
PY - 2026
DA - 2026/10/26
JO - Bleeding, Thrombosis and Vascular Biology
UR - https://www.btvb.org/btvb/article/view/912
AB - Introduction. Congenital platelet disorders constitute a heterogeneous group of primary hemostatic defects that are often difficult to diagnose without an integrated approach that includes functional testing. We report the case of a child with suspected Glanzmann thrombasthenia, in whom a novel variant of the RasGRP2 gene (NM_001098671.2) was identified that cosegregates with the clinical phenotype. Methods. An 8-year-old boy, presenting with recurrent epistaxis and bruising and without a significant family history, was evaluated at our center. Initial tests showed normal PT and aPTT and impaired platelet function (PFA-100), suggesting a platelet disorder such as Glanzmann’s thrombasthenia. However, the absence of aggregation tests and flow cytometric analysis prevented a definitive differential diagnosis. To identify the genetic cause and confirm the suspected diagnosis, clinical exome sequencing (6,600 genes) was performed using the NextSeq 550 platform (Illumina). Bioinformatic analysis included filtering based on allele frequency (
SN - 2785-5309
ER -