A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia
| العنوان: | A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia |
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| المؤلفون: | Despotović, Marta, Pereza, Nina, Peterlin, Borut, Ostojić, Saša, Golob, B, Maver, A, Roganović, Jelena |
| المصدر: | Balkan Journal of Medical Genetics Volume 25 Issue 1 |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genetics, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, Blood Platelet Disorders, Genetic Testing, Thrombocytopenia, Genetics (clinical) |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1311-0160 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee8d2181717637f8bd6e11d0454a64a2Test https://urn.nsk.hr/urn:nbn:hr:184:600519Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ee8d2181717637f8bd6e11d0454a64a2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13110160 |
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