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Diamond blackfan

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https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#1
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28377399/molecular-convergence-in-ex-vivo-models-of-diamond-blackfan-anemia
#2
Kelly A O'Brien, Jason E Farrar, Adrianna Vlachos, Stacie M Anderson, Crystiana A Tsujiura, Jens Lichtenberg, Lionel Blanc, Eva Atsidaftos, Abdel Elkahloun, Xiuli An, Steven R Ellis, Jeffery M Lipton, David M Bodine
Diamond Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other hematopoietic lineages. Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or deletions in ribosomal protein (RP) genes while <1% of patients with X-linked inheritance have been identified with mutations in the transcription factor GATA1 Erythroid cells from patients with DBA have not been well characterized and the mechanisms underlying the erythroid specific effects of either RP or GATA1 associated DBA remain unclear...
April 4, 2017: Blood
https://www.readbyqxmd.com/read/28376382/whole-exome-sequencing-in-the-differential-diagnosis-of-diamond-blackfan-anemia-clinical-and-molecular-study-of-three-patients-with-novel-rpl5-and-mosaic-rps19-mutations
#3
Edoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca, Orsetta Zuffardi
Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#4
REVIEW
Talia Wegman-Ostrosky, Sharon A Savage
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients...
February 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28202115/-clinical-features-and-pathogenic-gene-detection-of-diamond-blackfan-anemia
#5
Xu He, Zhi-Liang Xu
OBJECTIVE: To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes. METHODS: A retrospective analysis was performed for the clinical data of two children with DBA, and related literature was reviewed. RESULTS: The two children with DBA (2-3 months old) manifested with severe normochromic normocytic anemia, decreased reticulocyte count, and increased serum iron and serum ferritin. Normal white blood cell and platelet counts were noted in the two patients...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28179501/drug-discovery-for-diamond-blackfan-anemia-using-reprogrammed-hematopoietic-progenitors
#6
Sergei Doulatov, Linda T Vo, Elizabeth R Macari, Lara Wahlster, Melissa A Kinney, Alison M Taylor, Jessica Barragan, Manav Gupta, Katherine McGrath, Hsiang-Ying Lee, Jessica M Humphries, Alex DeVine, Anupama Narla, Blanche P Alter, Alan H Beggs, Suneet Agarwal, Benjamin L Ebert, Hanna T Gazda, Harvey F Lodish, Colin A Sieff, Thorsten M Schlaeger, Leonard I Zon, George Q Daley
Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell production. Because many DBA patients fail to respond to corticosteroid therapy, there is considerable need for therapeutics for this disorder. Identifying therapeutics for DBA requires circumventing the paucity of primary patient blood stem and progenitor cells. To this end, we adopted a reprogramming strategy to generate expandable hematopoietic progenitor cells from induced pluripotent stem cells (iPSCs) from DBA patients...
February 8, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28179280/gata-factor-mutations-in-hematologic-disease
#7
John D Crispino, Marshall S Horwitz
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28115275/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference
#8
REVIEW
Andrew C Dietz, Parinda A Mehta, Adrianna Vlachos, Sharon A Savage, Dorine Bresters, Jakub Tolar, Farid Boulad, Jean Hugues Dalle, Carmem Bonfim, Josu de la Fuente, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life, these patients face a variety of medical conditions, which may be a manifestation of underlying disease or due to pre-HCT therapy, the HCT, or a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data...
January 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#9
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28024515/-disorders-of-ribosomal-proteins-and-related-hematologic-diseases-review
#10
Yue-Kun Qi, Ling-Yun Wu
Ribosomal proteins are key elements of protein synthesis machinery, ribosome. Besides the essential role in ribosome assembly and protein synthesis, there are lots of extraribosomal functions for ribosomal proteins, ranging from regulating cell proliferation and apoptosis to mediating DNA repair, cellular development and differentiation. Based on the typical features of hematologic system, the ribosomal proteins are related with many hematologic diseases, such as Diamond-Blackfan anemia, 5q- syndrome. In this review, the recent research progress on extraribosomal functions and related hematologic diseases are summarised...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27927765/reduced-intensity-conditioning-and-stem-cell-transplantation-in-infants-with-diamond-blackfan-anemia
#11
Roman Crazzolara, Gabriele Kropshofer, Oskar A Haas, Susanne Matthes-Martin, Leo Kager
No abstract text is available yet for this article.
December 7, 2016: Haematologica
https://www.readbyqxmd.com/read/27913462/pure-red-cell-aplasia
#12
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909223/exome-sequencing-identified-rps15a-as-a-novel-causative-gene-for-diamond-blackfan-anemia
#13
Fumika Ikeda, Kenichi Yoshida, Tsutomu Toki, Tamayo Uechi, Shiori Ishida, Yukari Nakajima, Yoji Sasahara, Yusuke Okuno, Rika Kanezaki, Kiminori Terui, Takuya Kamio, Akie Kobayashi, Takashi Fujita, Aiko Sato-Otsubo, Yuichi Shiraishi, Hiroko Tanaka, Kenichi Chiba, Hideki Muramatsu, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Naoya Kenmochi, Satoru Miyano, Seishi Ogawa, Etsuro Ito
No abstract text is available yet for this article.
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27882484/diagnostic-challenge-of-diamond-blackfan-anemia-in-mothers-and-children-by-whole-exome-sequencing
#14
Takuya Ichimura, Kenichi Yoshida, Yusuke Okuno, Toshiaki Yujiri, Kozo Nagai, Masanori Nishi, Yuichi Shiraishi, Hiroo Ueno, Tsutomu Toki, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Toshiro Hara, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Etsuro Ito, Seishi Ogawa, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypoplasia...
April 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/27881371/pure-red-cell-aplasia
#15
REVIEW
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
November 24, 2016: Blood
https://www.readbyqxmd.com/read/27826594/iron-overload-and-platelet-function-defects-possible-correlation
#16
Abdulkader A Dahi, Ehab Hanafy, Mohammed Al Pakra
Acquired platelet function defect might be a consequence of iron overload. Even though there are various complications of iron overload, only few reports have indicated some correlations with platelets dysfunction. We report a child with Diamond-Blackfan anemia who has significant complications from iron overload due to chronic blood transfusion, and one of these complications is acquired platelet function defect that manifests with frequent episodes of epistaxis. Therefore, we emphasize the necessity for further studies to confirm direct correlation between iron overload as a causative agent and platelets dysfunction...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27765567/hypermethylation-of-28s-ribosomal-rna-in-%C3%AE-thalassemia-trait-carriers
#17
Wannapa Sornjai, Pathrapol Lithanatudom, Jenny Erales, Philippe Joly, Alain Francina, Sabine Hacot, Suthat Fucharoen, Saovaros Svasti, Jean Jacques Diaz, Hichem C Mertani, Duncan R Smith
Ribosome biogenesis is the process of synthesis of the cellular ribosomes which mediate protein translation. Integral with the ribosomes are four cytoplasmic ribosomal RNAs (rRNAs) which show extensive post-transcriptional modifications including 2'-O-methylation and pseudouridylation. Several hereditary hematologic diseases including Diamond-Blackfan anemia have been shown to be associated with defects in ribosome biogenesis. Thalassemia is the most important hematologic inherited genetic disease worldwide, and this study examined the post-transcriptional ribose methylation status of three specific active sites of the 28S rRNA molecule at positions 1858, 4197 and 4506 of β-thalassemia trait carriers and normal controls...
January 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/27734913/depletion-of-ribosomal-protein-s19-causes-a-reduction-of-rrna-synthesis
#18
Giada Juli, Angelo Gismondi, Valentina Monteleone, Sara Caldarola, Valentina Iadevaia, Anna Aspesi, Irma Dianzani, Christopher G Proud, Fabrizio Loreni
Ribosome biogenesis plays key roles in cell growth by providing increased capacity for protein synthesis. It requires coordinated production of ribosomal proteins (RP) and ribosomal RNA (rRNA), including the processing of the latter. Here, we show that, the depletion of RPS19 causes a reduction of rRNA synthesis in cell lines of both erythroid and non-erythroid origin. A similar effect is observed upon depletion of RPS6 or RPL11. The deficiency of RPS19 does not alter the stability of rRNA, but instead leads to an inhibition of RNA Polymerase I (Pol I) activity...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27732904/a-new-in-frame-deletion-in-ribosomal-protein-s19-in-a-chinese-infant-with-diamond-blackfan-anemia
#19
Jing-Ying Zhang, Ming Jia, Hai-Zhao Zhao, Ze-Bin Luo, Wei-Qun Xu, He-Ping Shen, Yong-Min Tang
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Ribosomal protein S19 (RPS19) is identified as the first gene associated with DBA. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains to be elucidated. We have identified a novel heterozygous frameshift mutation in RPS19 gene in a DBA child presenting with profound anemia after birth. A single nucleotide heterozygous deletion (C.251delG) results in frameshift in RPS19 gene in exon 4 at codon 84 with possible premature stop codon (p...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27643579/neurological-deficits-of-an-rps19-arg67del-model-of-diamond-blackfan-anaemia
#20
A Kubik-Zahorodna, B Schuster, I Kanchev, R Sedláček
Diamond-Blackfan anaemia is a rare disease caused by insufficient expression of ribosomal proteins and is characterized by erythroid hypoplasia often accompanied by growth retardation, congenital craniofacial and limb abnormalities. In addition, Diamond-Blackfan anaemia patients also exhibit a number of behavioural abnormalities. In this study we describe the behavioural effects observed in a new mouse mutant carrying a targeted single amino acid deletion in the ribosomal protein RPS19. This mutant, created by the deletion of arginine 67 in RPS19, exhibits craniofacial, skeletal, and brain abnormalities, accompanied by various neurobehavioural malfunctions...
2016: Folia Biologica (Praha)
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