
A NOVEL LIKELY PATHOGENIC VARIANT
IN THE RUNX1 GENE AS THE CAUSE
OF CONGENITAL THROMBOCYTOPENIA Despotović M1,*, Pereza N2, Peterlin B3, Ostojić S2, Golob B3, Maver A3, Roganović J4 *Corresponding Author: Marta Despotović, University of Rijeka, Faculty of Medicine, Braće Branchetta
20, 51000 Rijeka, Croatia. Tel: +385-91-732-6486. E-mail: despotovicmarta@gmail.com page: 4 download article in pdf format
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Abstract
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 nextgeneration
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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