A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Şule Çalışkan Kamış, Metin Çil, Begül Yağcı, Özlem Anlaş
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引用次数: 0

Abstract

Background: Diamond-Blackfan anemia is a rare congenital disorder characterized by erythroid hypoplasia and is associated with mutations in ribosomal protein genes. This case report describes a novel variant in the RPS26 gene, which, to our knowledge, has not been previously documented. Reporting this case adds to the understanding of Diamond-Blackfan anemia's genetic diversity and phenotypic manifestations.

Case presentation: A 16-month-old Turkish girl presented with pallor and macrocytosis. There was no familial history of anemia. Hemoglobin electrophoresis showed hemoglobin F at 10.8%, hemoglobin A2 at 1.7%, and hemoglobin A at 87.5% (normal range 0-2%). Peripheral smear demonstrated macrocytosis and reticulocytopenia. Bone marrow examination revealed marked erythroid hypoplasia and dyserythropoiesis. Targeted next-generation sequencing, which included genes such as RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, and TSR2, identified a heterozygous c.221G>T (p.C74F) variant in the RPS26 gene. This variant is reported here for the first time.

Conclusions: The identification of the c.221G>T (p.C74F) variant in RPS26 provides new insights into the genetic underpinnings of Diamond-Blackfan anemia. This finding underscores the importance of genetic testing in diagnosing Diamond-Blackfan anemia and highlights the potential for new mutations to contribute to the clinical presentation of the disease. Further research into RPS26 mutations may enhance the understanding of Diamond-Blackfan anemia's pathogenesis and lead to improved diagnostic and therapeutic strategies.

钻石-贝克范贫血症患者的新型无义 RPS26 基因突变:病例报告。
背景:菱形-贝克范贫血症是一种罕见的先天性疾病,以红细胞发育不全为特征,与核糖体蛋白基因突变有关。本病例报告描述了 RPS26 基因的一种新型变异,据我们所知,这种变异以前从未有过记录。该病例的报告有助于人们进一步了解菱形-贝克范贫血的遗传多样性和表型表现:一名 16 个月大的土耳其女孩出现面色苍白和大红细胞症。没有家族性贫血史。血红蛋白电泳显示血红蛋白 F 为 10.8%,血红蛋白 A2 为 1.7%,血红蛋白 A 为 87.5%(正常范围为 0-2%)。外周血涂片显示大红细胞增多症和网状细胞减少症。骨髓检查显示明显的红细胞发育不良和红细胞生成障碍。包括 RPL11、RPL15、RPL26、RPL35A、RPL5、RPS10、RPS17、RPS19、RPS24、RPS26、RPS28、RPS29、RPS7 和 TSR2 等基因在内的定向下一代测序确定了 RPS26 基因中的一个杂合 c.221G>T (p.C74F) 变异。本文首次报道了这一变异:RPS26基因中c.221G>T(p.C74F)变异的鉴定为钻石-巴拉克范贫血症的遗传基础提供了新的见解。这一发现强调了基因检测在诊断菱形-巴拉克范贫血症中的重要性,并凸显了新突变对该病临床表现的潜在影响。对RPS26基因突变的进一步研究可能会加深人们对菱形-巴拉克凡贫血症发病机制的了解,从而改进诊断和治疗策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Medical Case Reports
Journal of Medical Case Reports Medicine-Medicine (all)
CiteScore
1.50
自引率
0.00%
发文量
436
期刊介绍: JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
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