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[PMID]:29225165
[Au] Autor:Chakraborty A; Uechi T; Nakajima Y; Gazda HT; O'Donohue MF; Gleizes PE; Kenmochi N
[Ad] Endereço:Division of Molecular Genetics and Cancer, NU Centre for Science Education & Research, Nitte University, Mangalore 18, India. Electronic address: anirban@nitte.edu.in.
[Ti] Título:Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.
[So] Source:Biochem Biophys Res Commun;495(2):1839-1845, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis. In the present study, we analyzed the consequences of rpl11 depletion on erythropoiesis and ribosome biogenesis in zebrafish. As expected, Rpl11-deficient zebrafish exhibited defects in ribosome biogenesis and an anemia phenotype. However, co-inhibition of Tp53 did not alleviate the erythroid aplasia in these fish. Next, we explored the role of c-Myc in RPL11-deficient cellular and animal models. c-Myc and its target nucleolar proteins showed upregulation and increased localization in the head region of Rpl11-deficient zebrafish, where the morphological abnormalities and tp53 expression were more pronounced. Interestingly, in blood cells derived from DBA patients with mutations in RPL11, the biogenesis of ribosomes was defective, but the expression level of c-Myc and its target nucleolar proteins was unchanged. The results suggest a model whereby RPL11 deficiency activates the synthesis of c-Myc target nucleolar proteins, which subsequently triggers a p53 response. These results further demonstrate that the induction of Tp53 mediates the morphological, but not erythroid, defects associated with RPL11 deficiency.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/fisiopatologia
Proteínas Ribossômicas/deficiência
[Mh] Termos MeSH secundário: Anemia de Diamond-Blackfan/genética
Anemia de Diamond-Blackfan/patologia
Animais
Modelos Animais de Doenças
Eritropoese/genética
Proteínas de Peixes/deficiência
Proteínas de Peixes/genética
Genes myc
Genes p53
Seres Humanos
Mutação
Processamento Pós-Transcricional do RNA
Proteínas Ribossômicas/genética
Peixe-Zebra
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Fish Proteins); 0 (Ribosomal Proteins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE


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[PMID]:28742285
[Au] Autor:Carlston CM; Afify ZA; Palumbos JC; Bagley H; Barbagelata C; Wooderchak-Donahue WL; Mao R; Carey JC
[Ad] Endereço:Department of Pathology, University of Utah, Salt Lake City, Utah.
[Ti] Título:Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
[So] Source:Am J Med Genet A;173(10):2622-2627, 2017 Oct.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects. Here, we present the case of a 2-year-old boy with chronic mild normocytic anemia, short stature, bilateral underdevelopment of the thumbs, atrial septal defect, and hypospadias. Hematological testing revealed slightly decreased hematocrit and hemoglobin, normal HbF, and elevated eADA. Family history included maternal relatives with thumb defects, but the mother's thumbs were normal. Clinical exome sequencing detected a maternally-inherited RPL11 variant, c.396+3A>G, that is predicted to affect splicing. A family correlation study of the identified variant demonstrates segregation with thumb anomalies in the mother's family. RNA studies suggest that the variant produces an alternative transcript that is likely susceptible to nonsense-mediated decay. This report summarizes the prevalence of non-anemia findings in DBA7 and describes a non-classical familial presentation of DBA7 more associated with thumb anomalies than with anemia.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/genética
Mutação
Processamento de RNA
Proteínas Ribossômicas/genética
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Feminino
Seres Humanos
Masculino
Linhagem
Penetrância
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ribosomal Proteins); 0 (ribosomal protein L11)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38360


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[PMID]:28623394
[Au] Autor:Li Q; Luo C; Luo C; Wang J; Li B; Ding L; Chen J
[Ad] Endereço:Shanghai Children's Medical Center, Affiliated Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
[Ti] Título:Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.
[So] Source:Ann Hematol;96(8):1389-1397, 2017 Aug.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning. The median numbers of infused mononuclear cells and CD34+ cells were 14.20 × 10 /kg and 4.3 × 10 /kg, respectively. The median time for neutrophil and platelet recovery was 12 and 18 days, respectively. Complete donor engraftment was achieved in 23 of 24 patients. There was one primary graft failure. During a median follow-up of 27.5 months (range, 2-130 months), the overall survival in all patients was 95.8%. The incidence of grade II-III acute graft versus host disease (GvHD) and chronic GvHD was 29.2% and 16.7%, respectively. We conclude that HSCT can be a curative option for patients with IBMFS. Modification of the conditioning regimen based on the type of disease may lead to encouraging long-term outcomes.
[Mh] Termos MeSH primário: Anemia Aplástica/terapia
Doenças da Medula Óssea/terapia
Transplante de Células-Tronco de Sangue do Cordão Umbilical/métodos
Transplante de Células-Tronco Hematopoéticas/métodos
Hemoglobinúria Paroxística/terapia
Transplante de Células-Tronco de Sangue Periférico/métodos
[Mh] Termos MeSH secundário: Adolescente
Anemia de Diamond-Blackfan/terapia
Criança
Pré-Escolar
Transplante de Células-Tronco de Sangue do Cordão Umbilical/efeitos adversos
Seleção do Doador
Disceratose Congênita/terapia
Anemia de Fanconi/terapia
Feminino
Doença Enxerto-Hospedeiro/diagnóstico
Doença Enxerto-Hospedeiro/etiologia
Transplante de Células-Tronco Hematopoéticas/efeitos adversos
Hematúria/diagnóstico
Hematúria/etiologia
Seres Humanos
Lactente
Estimativa de Kaplan-Meier
Masculino
Avaliação de Resultados (Cuidados de Saúde)
Transplante de Células-Tronco de Sangue Periférico/efeitos adversos
Condicionamento Pré-Transplante
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170618
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3041-7


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[PMID]:28377399
[Au] Autor:O'Brien KA; Farrar JE; Vlachos A; Anderson SM; Tsujiura CA; Lichtenberg J; Blanc L; Atsidaftos E; Elkahloun A; An X; Ellis SR; Lipton JM; Bodine DM
[Ad] Endereço:Genetics and Molecular Biology Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD.
[Ti] Título:Molecular convergence in ex vivo models of Diamond-Blackfan anemia.
[So] Source:Blood;129(23):3111-3120, 2017 Jun 08.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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 Erythroid cells from patients with DBA have not been well characterized, and the mechanisms underlying the erythroid specific effects of either RP or associated DBA remain unclear. We have developed an ex vivo culture system to expand peripheral blood CD34 progenitor cells from patients with DBA and differentiate them into erythroid cells. Cells from patients with RP or mutations showed decreased proliferation and delayed erythroid differentiation in comparison with controls. RNA transcript analyses of erythroid cells from controls and patients with RP or mutations showed distinctive differences, with upregulation of heme biosynthesis genes prominently in RP-mediated DBA and failure to upregulate components of the translational apparatus in -mediated DBA. Our data show that dysregulation of translation is a common feature of DBA caused by both RP and mutations. This trial was registered at www.clinicaltrials.gov as #NCT00106015.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anemia de Diamond-Blackfan/sangue
Anemia de Diamond-Blackfan/metabolismo
Estudos de Casos e Controles
Diferenciação Celular/genética
Proliferação Celular/genética
Células Cultivadas
Criança
Pré-Escolar
Células Eritroides/metabolismo
Células Eritroides/patologia
Eritropoese/genética
Feminino
Fator de Transcrição GATA1/genética
Genes Dominantes
Genes Ligados ao Cromossomo X
Seres Humanos
Masculino
Modelos Genéticos
Mutação
Proteínas Ribossômicas/genética
Transcriptoma
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA1 Transcription Factor); 0 (GATA1 protein, human); 0 (Ribosomal Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-01-760462


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[PMID]:28283061
[Au] Autor:Kim AR; Ulirsch JC; Wilmes S; Unal E; Moraga I; Karakukcu M; Yuan D; Kazerounian S; Abdulhay NJ; King DS; Gupta N; Gabriel SB; Lander ES; Patiroglu T; Ozcan A; Ozdemir MA; Garcia KC; Piehler J; Gazda HT; Klein DE; Sankaran VG
[Ad] Endereço:Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard
[Ti] Título:Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.
[So] Source:Cell;168(6):1053-1064.e15, 2017 Mar 09.
[Is] ISSN:1097-4172
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cytokines are classically thought to stimulate downstream signaling pathways through monotonic activation of receptors. We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoietin (EPO). Surprisingly, the EPO R150Q mutant shows only a mild reduction in affinity for its receptor but has altered binding kinetics. The EPO mutant is less effective at stimulating erythroid cell proliferation and differentiation, even at maximally potent concentrations. While the EPO mutant can stimulate effectors such as STAT5 to a similar extent as the wild-type ligand, there is reduced JAK2-mediated phosphorylation of select downstream targets. This impairment in downstream signaling mechanistically arises from altered receptor dimerization dynamics due to extracellular binding changes. These results demonstrate how variation in a single cytokine can lead to biased downstream signaling and can thereby cause human disease. Moreover, we have defined a distinct treatable form of anemia through mutation identification and functional studies.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/genética
Anemia de Diamond-Blackfan/patologia
Eritropoetina/genética
Mutação de Sentido Incorreto
Transdução de Sinais
[Mh] Termos MeSH secundário: Anemia de Diamond-Blackfan/terapia
Criança
Consanguinidade
Ativação Enzimática
Eritropoese
Eritropoetina/química
Feminino
Seres Humanos
Janus Quinase 2/metabolismo
Cinética
Masculino
Receptores da Eritropoetina/química
Receptores da Eritropoetina/genética
Receptores da Eritropoetina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EPO protein, human); 0 (Receptors, Erythropoietin); 11096-26-7 (Erythropoietin); EC 2.7.10.2 (JAK2 protein, human); EC 2.7.10.2 (Janus Kinase 2)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE


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[PMID]:28211564
[Au] Autor:Wegman-Ostrosky T; Savage SA
[Ad] Endereço:Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
[Ti] Título:The genomics of inherited bone marrow failure: from mechanism to the clinic.
[So] Source:Br J Haematol;177(4):526-542, 2017 May.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. Herein we review the clinical features, underlying biology, and new genomic discoveries in the IBMFS, including Fanconi anaemia, dyskeratosis congenita, Diamond Blackfan anaemia, Shwachman Diamond syndrome and some disorders of the myeloid and megakaryocytic lineages.
[Mh] Termos MeSH primário: Anemia Aplástica/genética
Doenças da Medula Óssea/genética
Genômica/métodos
Hemoglobinúria Paroxística/genética
[Mh] Termos MeSH secundário: Anemia Aplástica/diagnóstico
Anemia de Diamond-Blackfan/diagnóstico
Anemia de Diamond-Blackfan/genética
Transtornos Plaquetários/diagnóstico
Transtornos Plaquetários/genética
Doenças da Medula Óssea/diagnóstico
Distúrbios no Reparo do DNA/genética
Disceratose Congênita/diagnóstico
Disceratose Congênita/genética
Insuficiência Pancreática Exócrina/diagnóstico
Insuficiência Pancreática Exócrina/genética
Anemia de Fanconi/diagnóstico
Anemia de Fanconi/genética
Aconselhamento Genético
Hemoglobinúria Paroxística/diagnóstico
Seres Humanos
Lipomatose/diagnóstico
Lipomatose/genética
Neutropenia/congênito
Neutropenia/diagnóstico
Neutropenia/genética
Ribossomos/genética
Telômero/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14535


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[PMID]:28202115
[Au] Autor:He X; Xu ZL
[Ad] Endereço:Department of Pediatrics, Renmin Hospital of Wuhan University, Wuhan 430060, China. zlxu-rm@163.com.
[Ti] Título:[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(2):171-175, 2017 Feb.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo: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. Bone marrow examination showed a decreased percentage of erythrocytes and rare normoblasts in the two patients. Gene screening showed a reported pathogenic heterozygous mutation in RPS19 gene, c.212G>A (p. Gly71Glu), in one patient, and there were no mutations in his parents. In the other patient, gene screening showed a heterozygous mutation in RPL5 gene, c.740T>C (p. I247L), which had not been reported in literature, and there were no mutations in her parents. A bioinformatic analysis showed that this might be a pathogenic mutation. CONCLUSIONS: The onset age of DBA is early infancy in most children, with a manifestation of erythroid deficiency. RPS19 and RPL5 gene mutations are common causes of this disease. Molecular detection helps with the early diagnosis of DBA.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/genética
Proteínas Ribossômicas/genética
[Mh] Termos MeSH secundário: Biologia Computacional
Seres Humanos
Lactente
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ribosomal Proteins); 0 (ribosomal protein L5, human); 0 (ribosomal protein S19)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE


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[PMID]:28179280
[Au] Autor:Crispino JD; Horwitz MS
[Ad] Endereço:Division of Hematology/Oncology, Northwestern University, Chicago, IL; and.
[Ti] Título:GATA factor mutations in hematologic disease.
[So] Source:Blood;129(15):2103-2110, 2017 Apr 13.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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 mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder, and a group of related congenital dyserythropoietic anemias with thrombocytopenia. Conversely, germ line mutations in are associated with GATA2 deficiency syndrome, whereas acquired mutations are seen in myelodysplastic syndrome, acute myeloid leukemia, and in blast crisis transformation of chronic myeloid leukemia. The fact that mutations in these genes are commonly seen in blood disorders underscores their critical roles and highlights the need to develop targeted therapies for transcription factors. This review focuses on hematopoietic disorders that are associated with mutations in two prominent GATA family members, and .
[Mh] Termos MeSH primário: Fator de Transcrição GATA1
Fator de Transcrição GATA2
Doenças Hematológicas
Hematopoese
Mutação
[Mh] Termos MeSH secundário: Anemia de Diamond-Blackfan/genética
Anemia de Diamond-Blackfan/metabolismo
Animais
Fator de Transcrição GATA1/genética
Fator de Transcrição GATA1/metabolismo
Fator de Transcrição GATA2/genética
Fator de Transcrição GATA2/metabolismo
Doenças Hematológicas/genética
Doenças Hematológicas/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (GATA1 Transcription Factor); 0 (GATA1 protein, human); 0 (GATA2 Transcription Factor); 0 (GATA2 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170526
[Lr] Data última revisão:
170526
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2016-09-687889


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[PMID]:27882484
[Au] Autor:Ichimura T; Yoshida K; Okuno Y; Yujiri T; Nagai K; Nishi M; Shiraishi Y; Ueno H; Toki T; Chiba K; Tanaka H; Muramatsu H; Hara T; Kanno H; Kojima S; Miyano S; Ito E; Ogawa S; Ohga S
[Ad] Endereço:Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-kogushi, Ube, Yamaguchi, 755-8505, Japan.
[Ti] Título:Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.
[So] Source:Int J Hematol;105(4):515-520, 2017 Apr.
[Is] ISSN:1865-3774
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo: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. This mother had a frame-shift mutation of RPL11 (exon 3, c.58_59del). Her infant showed transient neonatal anemia, but had no mutations of RP genes. The other mother-child pairs had a missense mutation of RPS19 (exon 4, c.185G>A), and a splicing error of RPS7 (exon 3, c.76-1G>T), respectively. Other than the reported mutations, there were no variants in genes significantly associated with anemia. Our results suggested that whole-exome sequencing (WES) is effective for achieving a prompt and correct diagnosis of human ribosomopathy.
[Mh] Termos MeSH primário: Anemia de Diamond-Blackfan/diagnóstico
Exoma/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Adulto
Anemia de Diamond-Blackfan/genética
Pré-Escolar
Facies
Família
Feminino
Seres Humanos
Masculino
Atrofia Muscular/genética
Linhagem
Proteínas Ribossômicas/genética
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ribosomal Proteins); 0 (ribosomal protein L11); 0 (ribosomal protein S19); 0 (ribosomal protein S7)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161125
[St] Status:MEDLINE
[do] DOI:10.1007/s12185-016-2151-7


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[PMID]:27913462
[Au] Autor:Means RT
[Ad] Endereço:Office of the Dean, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, TN.
[Ti] Título:Pure red cell aplasia.
[So] Source:Hematology Am Soc Hematol Educ Program;2016(1):51-56, 2016 Dec 02.
[Is] ISSN:1520-4383
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. The therapeutic approach to PRCA typically involves immunosuppression, but specific pathogenic subtypes are associated with specific therapeutic approaches. Cyclosporine A, with or without concurrent corticosteroids, appears to be the single most effective immunosuppressive agent.
[Mh] Termos MeSH primário: Corticosteroides/uso terapêutico
Anemia de Diamond-Blackfan
Doenças Autoimunes
Ciclosporina/uso terapêutico
Imunossupressores/uso terapêutico
[Mh] Termos MeSH secundário: Anemia de Diamond-Blackfan/tratamento farmacológico
Anemia de Diamond-Blackfan/imunologia
Anemia de Diamond-Blackfan/patologia
Doenças Autoimunes/tratamento farmacológico
Doenças Autoimunes/imunologia
Doenças Autoimunes/patologia
Seres Humanos
Leucemia Linfocítica Granular Grande/tratamento farmacológico
Leucemia Linfocítica Granular Grande/imunologia
Leucemia Linfocítica Granular Grande/patologia
Leucemia Linfocítica Crônica de Células B/tratamento farmacológico
Leucemia Linfocítica Crônica de Células B/imunologia
Leucemia Linfocítica Crônica de Células B/patologia
Síndromes Mielodisplásicas/tratamento farmacológico
Síndromes Mielodisplásicas/etiologia
Síndromes Mielodisplásicas/imunologia
Síndromes Mielodisplásicas/patologia
Infecções por Parvoviridae/tratamento farmacológico
Infecções por Parvoviridae/imunologia
Infecções por Parvoviridae/patologia
Parvovirus B19 Humano/imunologia
Timoma/tratamento farmacológico
Timoma/imunologia
Timoma/patologia
Vasculite/tratamento farmacológico
Vasculite/imunologia
Vasculite/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Adrenal Cortex Hormones); 0 (Immunosuppressive Agents); 83HN0GTJ6D (Cyclosporine)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170529
[Lr] Data última revisão:
170529
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161204
[St] Status:MEDLINE



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