ArticlePediatric blood & cancer2015
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Article in Pediatric blood & cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.British journal of haematology · 2021Trial
- HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.European journal of human genetics : EJHG · 2026Article
- A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.Molecular genetics and genomics : MGG · 2025Article
- Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing.Blood advances · 2025Article
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.The Lancet. Haematology · 2024Article
- Animal models of Diamond-Blackfan anemia: updates and challenges.Haematologica · 2023Review
- Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.FEBS open bio · 2022Article
- Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation.Frontiers in genetics · 2022Article
- Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants inHaematologica · 2021Article
- Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report.Frontiers in oncology · 2021Article
- The Effect of Interferons on Presentation of Defective Ribosomal Products as HLA Peptides.Molecular & cellular proteomics : MCP · 2021Article
- Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.International journal of hematology · 2020Article
- Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.BMC medical genetics · 2019Article
- How I manage children with Diamond-Blackfan anaemia.British journal of haematology · 2019Review
- Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases.Biomolecules · 2018Review
- A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.Human mutation · 2018Article
- Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.International journal of hematology · 2016Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundDiamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities.
methodsWe retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993 to 2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, RPL11, RPL35a, and GATA1.
resultsSevere anemia presented before 8 months of age in all 77 patients; before 2 months in 61 (78.2%); before 4 months in 71 (92.2%). Corticosteroid therapy was initiated after 1 year of age in the majority of patients. Most responded initially to steroids, while 5 responses were transient. Mutations in RP genes were detected in 35 of 57 patients studied: 15 in RPS19, 6 in RPL5, 3 in RPS7, 3 each in RPS10, RPS26, and RPL11 and 1 each in RPS24 and RPL35a; 24 of these mutations have not been previously reported. One patient had a balanced chromosomal translocation involving RPS19. No mutations in GATA1 were found.
conclusionIn our cohort from an ethnically diverse population the distribution of mutations among RP genes was approximately the same as was reported by others, although within genotypes most of the mutations had not been previously reported.
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