Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.

Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of several ribosomal protein (RP) genes, although for ∼30% of diagnosed patients no mutation is found in any of the known DBA-linked genes. Because DBA is such a rare disease with a particularly wide range of clinical phenotypes and molecular signatures, the development of collaborative efforts such as the ERARE-funded European DBA consortium (EuroDBA) has become imperative for DBA research. EuroDBA was founded in 2012 and brings together dedicated clinical and biological researchers of DBA from France, Italy, the Netherlands, Germany, Israel, Poland, and Turkey to achieve a number of goals including the consolidation of data in patient registries, establishment of minimal diagnostic criteria, and projects aimed at more fully describing the different mutations linked to DBA. This review will cover the history of the EuroDBA registries, the methods used by EuroDBA in the diagnosis of DBA, and how the consortium has successfully worked together towards the discovery of new DBA-linked genes and the better understanding their pathophysiological effects.

• Publication year

  2017

• Venue

  European Journal of Medical Genetics

• Publication date

  2017-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ejmg.2017.10.017PMID 29081386
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Diamond-Blackfan Anemia

  2019cited by this paper
• Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.

  2017cited by this paper
• A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

  2017cited by this paper
• Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

  2017cited by this paper
• The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70.

  2017cited by this paper
• Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

  2017cited by this paper
• The genomics of inherited bone marrow failure: from mechanism to the clinic

  2017cited by this paper
• Diamond–Blackfan Anaemia: From Genotype to Phenotype

  2016cited by this paper
• Targeted Gene Addition to a Safe Harbor locus in human CD34+ Hematopoietic Stem Cells for Correction of X-linked Chronic Granulomatous Disease

  2016cited by this paper
• Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

  2016cited by this paper
• Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan Anaemia

  2016cited by this paper
• A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia

  2015cited by this paper
• Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

  2015cited by this paper
• RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability

  2015cited by this paper
• Loss of function mutations in RPL27 and RPS27 identified by whole‐exome sequencing in Diamond‐Blackfan anaemia

  2015cited by this paper
• Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.

  2014cited by this paper
• Altered translation of GATA1 in Diamond-Blackfan anemia

  2014cited by this paper
• An overview of pre-ribosomal RNA processing in eukaryotes

  2014cited by this paper
• Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

  2014cited by this paper
• Recurrent GATA1 mutations in Diamond‐Blackfan anaemia

  2014cited by this paper
• Targeted gene therapy and cell reprogramming in Fanconi anemia

  2014cited by this paper
• Adenoviral vector delivery of RNA-guided CRISPR/Cas9 nuclease complexes induces targeted mutagenesis in a diverse array of human cells

  2014cited by this paper
• Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia

  2014cited by this paper
• Loss of GATA‐1 full length as a cause of Diamond–Blackfan anemia phenotype

  2014cited by this paper
• Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

  2014cited by this paper
• Marrow failure: a window into ribosome biology.

  2014cited by this paper
• Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

  2014cited by this paper
• Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

  2014cited by this paper
• CRISPR-Cas systems for editing, regulating and targeting genomes

  2014cited by this paper
• Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway

  2014cited by this paper
• Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

  2013cited by this paper
• Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia

  2013cited by this paper
• Ribosomal Protein SA Haploinsufficiency in Humans With Isolated Congenital Asplenia

  2013cited by this paper
• Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

  2013cited by this paper
• Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia

  2013cited by this paper
• Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.

  2012cited by this paper
• Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.

  2012cited by this paper
• High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

  2012cited by this paper
• Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

  2012cited by this paper
• Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

  2012cited by this paper
• Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia

  2012cited by this paper
• The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

  2012cited by this paper
• Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre‐ribosomal RNA processing defect in diamond–blackfan anemia

  2012cited by this paper
• Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

  2012cited by this paper
• Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting.

  2011cited by this paper
• Ribosome defects in disorders of erythropoiesis

  2011cited by this paper
• Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.

  2011cited by this paper
• The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

  2011cited by this paper
• The role of p53 in ribosomopathies.

  2011cited by this paper
• Ribosomal protein gene deletions in Diamond-Blackfan anemia.

  2011cited by this paper
• How I treat Diamond-Blackfan anemia.

  2010cited by this paper
• Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

  2010cited by this paper
• Pathophysiology and management of inherited bone marrow failure syndromes.

  2010cited by this paper
• The ribosomal basis of diamond‐blackfan anemia: mutation and database update

  2010cited by this paper
• Severe iron overload in Blackfan‐Diamond anemia: A case‐control study

  2009cited by this paper
• A new database for ribosomal protein genes which are mutated in Diamond‐Blackfan Anemia

  2008cited by this paper
• Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

  2008cited by this paper
• Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

  2008cited by this paper
• Diamond-Blackfan anemia: a ribosomal puzzle

  2008cited by this paper
• Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

  2008influential reference
• Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

  2008cited by this paper
• Impaired ribosome biogenesis in Diamond-Blackfan anemia.

  2007cited by this paper
• Ribosomal protein S17 gene (RPS17) is mutated in Diamond‐Blackfan anemia

  2007cited by this paper
• Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

  2006cited by this paper
• University

  2006cited by this paper
• Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis*

  2005cited by this paper
• Many Ribosomal Protein Genes Are Cancer Genes in Zebrafish

  2004cited by this paper
• Over‐expression of the ribosomal protein L36a gene is associated with cellular proliferation in hepatocellular carcinoma

  2004cited by this paper
• Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

  2004cited by this paper
• Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.

  2004cited by this paper
• A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency.

  2003cited by this paper
• Cancer in Fanconi anemia.

  2003cited by this paper
• The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia.

  2001cited by this paper
• Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

  1999cited by this paper
• Diamond‐Blackfan anaemia in the Italian population

  1999cited by this paper
• The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

  1999cited by this paper
• Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients

  1999cited by this paper
• Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

  1998cited by this paper
• Diamond‐Blackfan anaemia in the U.K.: analysis of 80 cases from a 20‐year birth cohort

  1996cited by this paper
• Sustained response after recombinant interleukin-3 in diamond blackfan anemia.

  1994cited by this paper
• Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond‐Blackfan anaemia and other haematologic diseases

  1988cited by this paper
• Hypoplastic anemia.

  1973cited by this paper
• Anaemia of infancy and early childhood.

  1936cited by this paper

• Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study.

  2025cites this paper
• A de novo nonsense variant in RPS10 causes Diamond–Blackfan anaemia in an Indian patient: clinical and functional evidence

  2025cites this paper
• A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome

  2025cites this paper
• Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review)

  2024cites this paper
• The ghost of parvovirus past: Idiopathic pure red cell aplasia responding to IVIG following resolved perinatal parvovirus B19 infection

  2024cites this paper
• Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia

  2024cites this paper
• Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond

  2024cites this paper
• STK10 mutations block erythropoiesis in acquired pure red cell aplasia via impairing ribosome biogenesis

  2024cites this paper
• Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

  2024cites this paper
• Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort

  2024cites this paper
• Clinical Archives of Bone and Joint Diseases

  2023cites this paper
• Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review

  2023cites this paper
• Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation

  2023cites this paper
• The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review

  2023influential citation
• An unsupervised deep learning framework for predicting human essential genes from population and functional genomic data

  2023cites this paper
• Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science

  2023cites this paper
• Congenital pure red cell anemia and idiopathic very early onset of severe colitis cured by allogeneic hematopoetic stem cell transplantation

  2023cites this paper
• Oral health status of patients with inherited bone marrow failure syndromes

  2022cites this paper
• Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report.

  2022cites this paper
• [Pure red cell aplasia: Diagnosis, classification and treatment].

  2022cites this paper
• L’érythroblastopénie : diagnostic, classification, traitement

  2022cites this paper
• [Prevalence and risk factors of obesity in children with Diamond-Blackfan anemia].

  2022cites this paper
• DHX37 and 46,XY DSD: A New Ribosomopathy?

  2022cites this paper
• HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

  2022cites this paper
• Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype

  2021cites this paper
• Diamond-Blackfan anemia.

  2021cites this paper
• Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34+ cord blood hematopoietic stem cells using a clinically applicable lentiviral vector

  2021cites this paper
• Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia

  2021cites this paper
• The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics

  2021cites this paper
• Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.

  2021cites this paper
• Результаты применения кондиционирования с треосульфаном перед трансплантацией гемопоэтических стволовых клеток у пациентов с анемией Даймонда– Блекфена

  2021cites this paper
• Recommendations on hematopoietic stem cell transplantation for patients with Diamond–Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT

  2021cites this paper
• Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.

  2021cites this paper
• Treosulfan-based conditioning for hematopoietic stem cell transplantation in patients with Diamond–Blackfan anemia

  2021cites this paper
• A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment

  2020cites this paper
• Ribosomal Protein L10: From Function to Dysfunction

  2020cites this paper
• The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia.

  2020cites this paper
• Diamond-Blackfan Anemia.

  2020cites this paper
• Gene mutation profile in patients with acquired pure red cell aplasia

  2020cites this paper
• A Primer on a Comprehensive Genetic Approach to Vascular Anomalies

  2020cites this paper
• Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

  2020cites this paper
• Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias

  2020cites this paper
• Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.

  2020cites this paper
• Talking About Rare Diseases

  2020cites this paper
• Diamond-Blackfan Anemia: 2 Cases With a Twist

  2020cites this paper
• Diamond–Blackfan anaemia: understanding an old disease

  2020cites this paper
• UFMylation regulates translational homeostasis and cell cycle progression

  2020cites this paper
• A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?

  2020cites this paper
• Advances in the gene therapy of monogenic blood cell diseases

  2019cites this paper
• CD3+/CD19+ Depleted Matched and Mismatched Unrelated Donor Hematopoietic Stem Cell Transplant with Targeted T Cell Addback Is Associated with Excellent Outcomes in Pediatric Patients with Nonmalignant Hematologic Disorders.

  2019cites this paper
• Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.

  2019cites this paper
• Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

  2019cites this paper
• Managing the Unusual Causes of Fetal Anemia

  2019cites this paper
• Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment

  2019cites this paper
• A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia

  2019cites this paper
• Refining and improving a next-generation sequencing gene panel for clinical diagnosis of hereditary hematologic diseases and development of bioinformatic tools for biomedical analysis

  2019cites this paper
• An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia

  2018cites this paper
• Inherited Bone Marrow Failure Syndromes

  2018cites this paper
• Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

  2018cites this paper
• How I manage children with Diamond‐Blackfan anaemia

  2018cites this paper
• The Genetic Landscape of Diamond-Blackfan Anemia

  2018cites this paper
• Emerging Therapeutic Approaches for Diamond Blackfan Anemia

  2018cites this paper
• Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia

  2018cites this paper
• Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

  2018cites this paper
• Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

  2018cites this paper
• Peering through zebrafish to understand inherited bone marrow failure syndromes

  2018cites this paper
• Mutant KLF1 in Adult Anemic Nan Mice Leads to Profound Transcriptome Changes and Disordered Erythropoiesis

  2018cites this paper
• Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

  2018cites this paper
• Vzácné anémie ze skupiny vrozených syndromů selhání kostní dřeně Rare anemias from the group of congenital bone marrow failure syndromes

  2018cites this paper
• A 20-year long experience of the Diamond-Blackfan Anaemia Italian Registry: RPS and RPL genes, different faces of the same disease? AUTHORS

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