{"title":"A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.","authors":"Şule Çalışkan Kamış, Metin Çil, Begül Yağcı, Özlem Anlaş","doi":"10.1186/s13256-024-04907-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"562"},"PeriodicalIF":0.9000,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11580626/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13256-024-04907-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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