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

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.