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Scientific paper - Case study
A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia
Balkan Journal of Medical Genetics, 25 (2023), 1; 85-88. https://doi.org/10.2478/bjmg-2022-0009
Despotović, Marta; Pereza, Nina; Peterlin, Borut; Ostojić, Saša; Golob, B; Maver, A; Roganović, Jelena

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Despotović, M., Pereza, N., Peterlin, B., Ostojić, S., Golob, B., Maver, A. & Roganović, J. (2023). A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia. Balkan Journal of Medical Genetics, 25. (1), 85-88. doi: 10.2478/bjmg-2022-0009

Despotović, Marta, et al. "A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia." Balkan Journal of Medical Genetics, vol. 25, no. 1, 2023, pp. 85-88. https://doi.org/10.2478/bjmg-2022-0009

Despotović, Marta, Nina Pereza, Borut Peterlin, Saša Ostojić, B Golob, A Maver and Jelena Roganović. "A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia." Balkan Journal of Medical Genetics 25, no. 1 (2023): 85-88. https://doi.org/10.2478/bjmg-2022-0009

Despotović, M., et al. (2023) 'A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia', Balkan Journal of Medical Genetics, 25(1), pp. 85-88. doi: 10.2478/bjmg-2022-0009

Despotović M, Pereza N, Peterlin B, Ostojić S, Golob B, Maver A, and sur.. A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia. Balkan Journal of Medical Genetics [Internet]. 2023 March 01 [cited 2024 December 25];25(1):85-88. doi: 10.2478/bjmg-2022-0009

M. Despotović, et al., "A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia", Balkan Journal of Medical Genetics, vol. 25, no. 1, pp. 85-88, March 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:600519. [Accessed: 25 December 2024]

Metadata
Title (english)A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia
AuthorMarta Despotović
AuthorNina Pereza
AuthorBorut Peterlin
AuthorSaša Ostojić
AuthorB Golob
AuthorA Maver
AuthorJelena Roganović
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleBalkan Journal of Medical Genetics
Numberingvol. 25, no. 1, pp. 85-88
e-ISSN1311-0160
DOIhttps://doi.org/10.2478/bjmg-2022-0009
URN:NBNurn:nbn:hr:184:600519
Publication2023-03-01
Document URLhttps://www.sciendo.com/article/10.2478/bjmg-2022-0009
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-05-17 09:13:03