| http://purl.uniprot.org/citations/37376976 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37376976 | http://www.w3.org/2000/01/rdf-schema#comment | "IntroductionDiamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroid aplasia, physical malformation, and cancer predisposition. Twenty ribosomal protein genes and three non-ribosomal protein genes have been identified associated with DBA.MethodsTo investigate the presence of novel mutations and gain a deeper understanding of the molecular mechanisms of disease, targeted next-generation sequencing was performed in 12 patients with clinically suspected DBA. Literatures were retrieved with complete clinical information published in English by November 2022. The clinical features, treatment, and RPS10/RPS26 mutations were analyzed.ResultsAmong the 12 patients, 11 mutations were identified and 5 of them were novel (RPS19, p.W52S; RPS10, p.P106Qfs*11; RPS26, p.R28*; RPL5, p.R35*; RPL11, p.T44Lfs*40). Including 2 patients in this study, 13 patients with RPS10 mutations and 38 patients with RPS26 mutations were reported from 4 and 6 countries, respectively. The incidences of physical malformation in patients with RPS10 and RPS26 mutations (22% and 36%, respectively) were lower than the overall incidence in DBA patients (~50%). Patients with RPS26 mutations had a worse response rate of steroid therapy than RPS10 (47% vs. 87.5%), but preferred RBC transfusions (67% vs. 44%, p = 0.0253).ConclusionOur findings add to the DBA pathogenic variant database and demonstrate the clinical presentations of the DBA patients with RPS10/RPS26 mutations. It shows that next-generation sequencing is a powerful tool for the diagnosis of genetic diseases such as DBA."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.org/dc/terms/identifier | "doi:10.1111/ijlh.14126"xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/author | "Chen L."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/author | "Lin Y."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/author | "Su Y."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/author | "Ru K."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/name | "Int J Lab Hematol"xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/pages | "766-773"xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/title | "Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations."xsd:string |
| http://purl.uniprot.org/citations/37376976 | http://purl.uniprot.org/core/volume | "45"xsd:string |
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