RUNX1基因的一种新的可能致病变异是先天性血小板减少症的原因。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
M Despotović, N Pereza, B Peterlin, S Ostojić, B Golob, A Maver, J Roganović
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引用次数: 0

摘要

简介:RUNX1 (runt相关转录因子1)基因的杂合致病性和可能致病性序列变异是血小板计数减少和/或血小板功能障碍以及发生骨髓发育不良和急性髓系白血病风险增加的常见遗传原因。大多数致病变异是替换,很少从头发生。本病例报告的目的是提出一个先天性血小板减少症的患者,由RUNX1基因外显子9的缺失变异引起。病例报告:一名一个月大的男婴因贫血和血小板减少症在急性病毒感染过程中被证实住进里耶卡临床医院中心。随访期间,患者轻度外伤后偶尔出现下肢瘀点和瘀斑,无其他症状。患者的血小板持续轻度下降,形态正常,但有肾上腺素和二磷酸腺苷的病理聚集。由于病因不明的持续性轻度血小板减少症,他在五岁时被转介进行基因检测。从患者外周血中分离基因组DNA,采用新一代测序方法进行全外显子组测序。一个杂合移码变体c.1160delG (NM_001754.4)在第9外显子中被鉴定出来。这种变异被归类为可能致病。结论:据我们所知,RUNX1基因的杂合变异c.1160delG首次在我们的患者中被描述。尽管RUNX1基因的致病变异非常罕见,但病因不明的持续低血小板计数应引起对潜在遗传疾病的怀疑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Novel Likely Pathogenic Variant in the RUNX1 Gene as the Cause of Congenital Thrombocytopenia.

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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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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