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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

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Despotović, M., Pereza, N., Peterlin, B., Ostojić, S., Golob, B., Maver, A. i 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, br. 1, 2023, str. 85-88. https://doi.org/10.2478/bjmg-2022-0009

Despotović, Marta, Nina Pereza, Borut Peterlin, Saša Ostojić, B Golob, A Maver i Jelena Roganović. "A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia." Balkan Journal of Medical Genetics 25, br. 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), str. 85-88. doi: 10.2478/bjmg-2022-0009

Despotović M, Pereza N, Peterlin B, Ostojić S, Golob B, Maver A, i sur.. A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia. Balkan Journal of Medical Genetics [Internet]. 01.03.2023. [pristupljeno 03.12.2024.];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, br. 1, str. 85-88, Ožujak 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:600519. [Citirano: 03.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:600519
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Podaci o radu
Naslov (engleski)A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia
AutorMarta Despotović
AutorNina Pereza
AutorBorut Peterlin
AutorSaša Ostojić
AutorB Golob
AutorA Maver
AutorJelena Roganović
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za pedijatriju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaBalkan Journal of Medical Genetics
Brojčani podacivol. 25, br. 1, str. 85-88
e-ISSN1311-0160
DOIhttps://doi.org/10.2478/bjmg-2022-0009
URN:NBNurn:nbn:hr:184:600519
Datum objave publikacije2023-03-01
URL dokumentahttps://www.sciendo.com/article/10.2478/bjmg-2022-0009
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2023-05-17 09:13:03