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A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia

M Despotović

M Despotović

University of Rijeka, Faculty of MedicineRijeka, Croatia
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Despotović, M
, 
N Pereza

N Pereza

Department of Medical Biology and Genetics, University of Rijeka, Faculty of MedicineRijeka, Croatia
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Pereza, N
, 
B Peterlin

B Peterlin

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B
, 
S Ostojić

S Ostojić

Department of Medical Biology and Genetics, University of Rijeka, Faculty of MedicineRijeka, Croatia
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Ostojić, S
, 
B Golob

B Golob

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Golob, B
, 
A Maver

A Maver

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A
 and 
J Roganović

J Roganović

Department of Pediatrics, Clinical Hospital Center RijekaRijeka, Croatia
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Roganović, J
  
Mar 01, 2023
A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia's Cover Image
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Article Category: Case Report
Published Online: Mar 01, 2023
Page range: 85 - 88
DOI: https://doi.org/10.2478/bjmg-2022-0009
Keywords
© 2022 Despotović M, Pereza N, Peterlin B, Ostojić S, Golob B, Maver A, Roganović J, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Introduction

Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the RUNX1 gene.

Case report

A one-month-old male infant was admitted to the Clinical Hospital Center Rijeka because of anemia and thrombocytopenia verified in the course of an acute viral infection. During follow-up, he occasionally had petechiae and ecchymoses on the lower extremities after mild trauma, with no other symptoms. The patient had persistent slightly decreased values of platelets with normal morphology, but with pathological aggregation with adrenaline and adenosine diphosphate. Due to the unclear etiology of persistent mild thrombocytopenia, he was referred for genetic testing at the age of five. Genomic DNA was isolated from the patient’s peripheral blood and whole-exome sequencing was performed using the next-generation sequencing method. A heterozygous frameshift variant, c.1160delG (NM_001754.4), was identified in exon 9. The variant is classified as likely pathogenic.

Conclusion

To the best of our knowledge, the heterozygous variant c.1160delG in the RUNX1 gene was first described in our patient. Although pathogenic variants in the RUNX1 genes are very rare, persistently low platelet counts of unclear etiology should raise suspicion of an underlying genetic disorder.
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Medicine, Basic Medical Science, Basic Medical Science, other
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