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  1 / 183 MEDLINE  
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[PMID]:27832700
[Au] Autor:Yi H; Zhang Q; Brooks ED; Yang C; Thurberg BL; Kishnani PS; Sun B
[Ad] Endereço:1 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center , Durham, North Carolina.
[Ti] Título:Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
[So] Source:Hum Gene Ther;28(3):286-294, 2017 Mar.
[Is] ISSN:1557-7422
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluates the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (Gbe1 ). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old Gbe1 mice at a dose of 5 × 10 vector genomes per mouse. Mice were euthanized at 3 and 9 months of age. In the AAV-treated mice at 3 months of age, GBE enzyme activity was highly elevated in heart, which is consistent with the high copy number of the viral vector genome detected. GBE activity also increased significantly in skeletal muscles and the brain, but not in the liver. The glycogen content was reduced to wild-type levels in muscles and significantly reduced in the liver and brain. At 9 months of age, though GBE activity was only significantly elevated in the heart, glycogen levels were significantly reduced in the liver, brain, and skeletal muscles of the AAV-treated mice. In addition, the AAV treatment resulted in an overall decrease in plasma activities of alanine transaminase, aspartate transaminase, and creatine kinase, and a significant increase in fasting plasma glucose concentration at 9 months of age. This suggests an alleviation of damage and improvement of function in the liver and muscles by the AAV treatment. This study demonstrated a long-term benefit of a systemic injection of an AAV-GBE vector in Gbe1 mice.
[Mh] Termos MeSH primário: Enzima Ramificadora de 1,4-alfa-Glucana/genética
Dependovirus/genética
Terapia Genética
Vetores Genéticos/administração & dosagem
Doença de Depósito de Glicogênio Tipo IV/terapia
Glicogênio/metabolismo
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Doença de Depósito de Glicogênio Tipo IV/genética
Seres Humanos
Fígado/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Músculo Esquelético/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9005-79-2 (Glycogen); EC 2.4.1.18 (1,4-alpha-Glucan Branching Enzyme)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161112
[St] Status:MEDLINE
[do] DOI:10.1089/hum.2016.099


  2 / 183 MEDLINE  
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[PMID]:27442143
[Au] Autor:Schänzer A; Faas D; Rust S; Podskarbi T; van Kuilenburg AB; Scarpa M; Kunze A; Marquardt T; Hahn A
[Ti] Título:Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).
[Ti] Título:Deutlich erhöhte Chitotriosidase Aktivität bei einem Kind mit kongenitalem Morbus Anderson (Glykogenspeicherkrankung Typ IV)..
[So] Source:Klin Padiatr;228(5):277-9, 2016 Sep.
[Is] ISSN:1439-3824
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo IV/diagnóstico
Doença de Depósito de Glicogênio Tipo IV/enzimologia
Hexosaminidases/sangue
[Mh] Termos MeSH secundário: Biópsia
Carbono-Carbono Ligases/deficiência
Carbono-Carbono Ligases/genética
Consanguinidade
Análise Mutacional de DNA
Feminino
Genes Recessivos/genética
Alemanha
Doença de Depósito de Glicogênio Tipo IV/genética
Doença de Depósito de Glicogênio Tipo IV/patologia
Seres Humanos
Recém-Nascido
Macrófagos/patologia
Músculo Esquelético/patologia
Miofibrilas/patologia
Turquia/etnologia
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
Distúrbios Congênitos do Ciclo da Ureia/enzimologia
Distúrbios Congênitos do Ciclo da Ureia/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.- (Hexosaminidases); EC 3.2.1.- (chitotriosidase); EC 6.4.- (Carbon-Carbon Ligases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160722
[St] Status:MEDLINE
[do] DOI:10.1055/s-0042-109399


  3 / 183 MEDLINE  
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[PMID]:27107456
[Au] Autor:Said SM; Murphree MI; Mounajjed T; El-Youssef M; Zhang L
[Ad] Endereço:Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, United states, 55905. Electronic address: said.samar@mayo.edu.
[Ti] Título:A novel GBE1 gene variant in a child with glycogen storage disease type IV.
[So] Source:Hum Pathol;54:152-6, 2016 Aug.
[Is] ISSN:1532-8392
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness. He subsequently was diagnosed with glycogen storage disease type IV based on a liver biopsy histology and electron microscopy. Glycogen branching enzyme activity was in the low range. Genetic analysis demonstrated a novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene, which is believed to be pathogenic. This variant was inherited from the patient's mother who was asymptomatic with normal glycogen branching enzyme activity. Whole-exome sequencing failed to reveal additional variations in the GBE1 gene.
[Mh] Termos MeSH primário: Variação Genética
Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/genética
[Mh] Termos MeSH secundário: Biópsia
Pré-Escolar
Éxons
Predisposição Genética para Doença
Sistema da Enzima Desramificadora do Glicogênio/deficiência
Doença de Depósito de Glicogênio Tipo IV/diagnóstico
Doença de Depósito de Glicogênio Tipo IV/enzimologia
Hereditariedade
Heterozigoto
Seres Humanos
Fígado/enzimologia
Fígado/ultraestrutura
Masculino
Microscopia Eletrônica
Técnicas de Diagnóstico Molecular
Linhagem
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170814
[Lr] Data última revisão:
170814
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160425
[St] Status:MEDLINE


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[PMID]:26573604
[Au] Autor:Pini J; Rouleau M; Desnuelle C; Sacconi S; Bendahhou S
[Ad] Endereço:1 UMR7370 CNRS, LP2M, Labex ICST, Faculté de Médecine, University Nice Sophia Antipolis , Nice, France .
[Ti] Título:Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.
[So] Source:Stem Cells Dev;25(2):151-9, 2016 Jan 15.
[Is] ISSN:1557-8534
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Andersen's syndrome (AS) is a rare disorder characterized by a triad of symptoms: periodic paralysis, cardiac arrhythmia, and bone developmental defects. Most of the patients carry mutations on the inward rectifier potassium channel Kir2.1 encoded by the KCNJ2 gene. kcnj2 knockout mice are lethal at birth preventing, hence, thorough investigations of the physiological and pathophysiological events. We have generated induced pluripotent stem (iPS) cells from healthy as well as from AS patient muscular biopsies using the four-gene cassette required for cellular reprogramming (Oct4, Sox2, Klf4, and c-Myc). The generated AS-iPS cells exhibited the gold standard requirement for iPS cells: expression of genetics and surface pluripotent markers, strong alkaline phosphatase activity, self-renewal, and could be differentiated by the formation of embryoid bodies (EBs) into the three germ layers. Sequencing of the entire coding sequence of the KCNJ2 gene, in AS-iPS cells, revealed that the reprogramming process did not revert the Andersen's syndrome-associated mutation. Moreover, no difference was observed between control and AS-iPS cells in terms of pluripotent markers' expression, self-renewal, and three germ layer differentiation. Interestingly, expression of osteogenic markers are lower in EB-differentiated AS-iPS compared to control iPS cells. Our results showed that the Kir2.1 channel is not important for the reprogramming process and the early step of the development in vitro. However, the osteogenic machinery appears to be hastened in AS-iPS cells, strongly indicating that the generated AS-iPS cells could be a good model to better understand the AS pathophysiology.
[Mh] Termos MeSH primário: Diferenciação Celular/fisiologia
Reprogramação Celular/fisiologia
Doença de Depósito de Glicogênio Tipo IV/patologia
Células-Tronco Pluripotentes Induzidas/citologia
[Mh] Termos MeSH secundário: Comunicação Celular/fisiologia
Células Cultivadas
Corpos Embrioides/metabolismo
Fibroblastos/citologia
Camadas Germinativas/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151118
[St] Status:MEDLINE
[do] DOI:10.1089/scd.2015.0258


  5 / 183 MEDLINE  
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[PMID]:26166723
[Au] Autor:Bendroth-Asmussen L; Aksglaede L; Gernow AB; Lund AM
[Ad] Endereço:Departments of Pathology (L.B.-A., A.B.G.) Clinical Genetics (L.A., A.M.L.), Copenhagen University Hospital, Copenhagen, Denmark.
[Ti] Título:Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
[So] Source:Int J Gynecol Pathol;35(1):38-40, 2016 Jan.
[Is] ISSN:1538-7151
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies.
[Mh] Termos MeSH primário: Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/diagnóstico
[Mh] Termos MeSH secundário: Aborto Espontâneo
Adulto
Análise Mutacional de DNA
Feminino
Testes Genéticos
Doença de Depósito de Glicogênio Tipo IV/genética
Seres Humanos
Mutação
Placenta/patologia
Gravidez
Diagnóstico Pré-Natal
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170418
[Lr] Data última revisão:
170418
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150714
[St] Status:MEDLINE
[do] DOI:10.1097/PGP.0000000000000214


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[PMID]:25489661
[Au] Autor:Dainese L; Adam N; Boudjemaa S; Hadid K; Rosenblatt J; Jouannic JM; Heron D; Froissart R; Coulomb A
[Ad] Endereço:1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
[Ti] Título:Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.
[So] Source:Pediatr Dev Pathol;19(6):512-515, 2016 Nov/Dec.
[Is] ISSN:1093-5266
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration was performed. Pathological examination showed immature villi with numerous slightly yellow intracytoplasmic inclusions within the early implantation stage cytotrophoblastic cells. Inclusions were periodic acid-Schiff and Alcian blue positive and partially positive with periodic acid-Schiff with amylase. Diagnosis of Glycogen storage disease type IV (GSD IV) was made. Genetic analysis of glycogen branching enzyme 1 gene (GBE1) was performed in parents and showed a novel deletion of 1 nucleotide, c.1937delT, affecting the mother and a mutation affecting a consensus splice site, c.691+2T>C, in the father. At time of subsequent pregnancy, genetic counseling with GBE1 gene analysis was performed on throphoblastic biopsy and showed a mutated allele, c.1937delT, inherited from the mother. The mother gave birth to a healthy, unaffected female newborn. Our findings demonstrate that GSD IV may affect early pregnancies, leading to trophoblastic damage and early fetal loss. Diagnosis can accurately be made on pathological examination and should be further documented by genetic analysis.
[Mh] Termos MeSH primário: Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/genética
Mutação
Complicações na Gravidez/genética
Trofoblastos/patologia
[Mh] Termos MeSH secundário: Aborto Espontâneo
Adulto
Feminino
Doença de Depósito de Glicogênio Tipo IV/complicações
Seres Humanos
Reação em Cadeia da Polimerase
Gravidez
Complicações na Gravidez/patologia
Primeiro Trimestre da Gravidez
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141210
[St] Status:MEDLINE
[do] DOI:10.2350/14-09-1557-CR.1


  7 / 183 MEDLINE  
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[PMID]:26385640
[Au] Autor:Orhan Akman H; Emmanuele V; Kurt YG; Kurt B; Sheiko T; DiMauro S; Craigen WJ
[Ad] Endereço:Department of Neurology, Columbia University Medical Center, New York, NY, USA, hoa2101@cumc.columbia.edu ho_akman@yahoo.com.
[Ti] Título:A novel mouse model that recapitulates adult-onset glycogenosis type 4.
[So] Source:Hum Mol Genet;24(23):6801-10, 2015 Dec 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age at onset. Complete loss of enzyme activity is lethal in utero or in infancy and affects primarily the muscle and the liver. However, residual enzyme activity as low as 5-20% leads to juvenile or adult onset of a disorder that primarily affects the central and peripheral nervous system and muscles and in the latter is termed adult polyglucosan body disease (APBD). Here, we describe a mouse model of GSD IV that reflects this spectrum of disease. Homologous recombination was used to knock in the most common GBE1 mutation p.Y329S c.986A > C found in APBD patients of Ashkenazi Jewish decent. Mice homozygous for this allele (Gbe1(ys/ys)) exhibit a phenotype similar to APBD, with widespread accumulation of PG. Adult mice exhibit progressive neuromuscular dysfunction and die prematurely. While the onset of symptoms is limited to adult mice, PG accumulates in tissues of newborn mice but is initially absent from the cerebral cortex and heart muscle. Thus, PG is well tolerated in most tissues, but the eventual accumulation in neurons and their axons causes neuropathy that leads to hind limb spasticity and premature death. This mouse model mimics the pathology and pathophysiologic features of human adult-onset branching enzyme deficiency.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/metabolismo
Mutação
[Mh] Termos MeSH secundário: Animais
Sistema Nervoso Central/metabolismo
Sistema Nervoso Central/fisiopatologia
Técnicas de Introdução de Genes
Doença de Depósito de Glicogênio/genética
Doença de Depósito de Glicogênio/metabolismo
Doença de Depósito de Glicogênio/fisiopatologia
Doença de Depósito de Glicogênio Tipo IV/genética
Doença de Depósito de Glicogênio Tipo IV/fisiopatologia
Camundongos
Músculo Estriado/metabolismo
Músculo Estriado/fisiopatologia
Doenças do Sistema Nervoso/genética
Doenças do Sistema Nervoso/metabolismo
Doenças do Sistema Nervoso/fisiopatologia
Sistema Nervoso Periférico/metabolismo
Sistema Nervoso Periférico/fisiopatologia
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150920
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddv385


  8 / 183 MEDLINE  
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[PMID]:26199317
[Au] Autor:Froese DS; Michaeli A; McCorvie TJ; Krojer T; Sasi M; Melaev E; Goldblum A; Zatsepin M; Lossos A; Álvarez R; Escribá PV; Minassian BA; von Delft F; Kakhlon O; Yue WW
[Ad] Endereço:Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK.
[Ti] Título:Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
[So] Source:Hum Mol Genet;24(20):5667-76, 2015 Oct 15.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Mutations in the GBE1 gene lead to the heterogeneous early-onset glycogen storage disorder type IV (GSDIV) or the late-onset adult polyglucosan body disease (APBD). To better understand this essential enzyme, we crystallized human GBE1 in the apo form, and in complex with a tetra- or hepta-saccharide. The GBE1 structure reveals a conserved amylase core that houses the active centre for the branching reaction and harbours almost all GSDIV and APBD mutations. A non-catalytic binding cleft, proximal to the site of the common APBD mutation p.Y329S, was found to bind the tetra- and hepta-saccharides and may represent a higher-affinity site employed to anchor the complex glycogen substrate for the branching reaction. Expression of recombinant GBE1-p.Y329S resulted in drastically reduced protein yield and solubility compared with wild type, suggesting this disease allele causes protein misfolding and may be amenable to small molecule stabilization. To explore this, we generated a structural model of GBE1-p.Y329S and designed peptides ab initio to stabilize the mutation. As proof-of-principle, we evaluated treatment of one tetra-peptide, Leu-Thr-Lys-Glu, in APBD patient cells. We demonstrate intracellular transport of this peptide, its binding and stabilization of GBE1-p.Y329S, and 2-fold increased mutant enzymatic activity compared with untreated patient cells. Together, our data provide the rationale and starting point for the screening of small molecule chaperones, which could become novel therapies for this disease.
[Mh] Termos MeSH primário: Sistema da Enzima Desramificadora do Glicogênio/química
Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/enzimologia
Doença de Depósito de Glicogênio/enzimologia
Mutação de Sentido Incorreto
Doenças do Sistema Nervoso/enzimologia
Peptídeos/uso terapêutico
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Biologia Computacional
Sistema da Enzima Desramificadora do Glicogênio/efeitos dos fármacos
Sistema da Enzima Desramificadora do Glicogênio/metabolismo
Doença de Depósito de Glicogênio/tratamento farmacológico
Doença de Depósito de Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/genética
Seres Humanos
Dados de Sequência Molecular
Doenças do Sistema Nervoso/tratamento farmacológico
Doenças do Sistema Nervoso/genética
Estrutura Terciária de Proteína
Alinhamento de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycogen Debranching Enzyme System); 0 (Peptides); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150723
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddv280


  9 / 183 MEDLINE  
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[PMID]:26147564
[Au] Autor:Alamillo CL; Powis Z; Farwell K; Shahmirzadi L; Weltmer EC; Turocy J; Lowe T; Kobelka C; Chen E; Basel D; Ashkinadze E; D'Augelli L; Chao E; Tang S
[Ad] Endereço:Ambry Genetics, Aliso Viejo, CA, USA.
[Ti] Título:Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
[So] Source:Prenat Diagn;35(11):1073-8, 2015 Nov.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed. METHODS: We performed a retrospective analysis of the first seven cases referred to our laboratory for exome sequencing following fetal demise or termination of pregnancy. All seven pregnancies had multiple congenital anomalies identified by level II ultrasound. Exome sequencing was performed on trios using cultured amniocytes or products of conception from the affected fetuses. RESULTS: Relevant alterations were identified in more than half of the cases (4/7). Three of the four were categorized as 'positive' results, and one of the four was categorized as a 'likely positive' result. The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence. CONCLUSION: This data suggests that exome sequencing is likely to be a valuable diagnostic testing option for pregnancies with multiple congenital anomalies detected by prenatal ultrasound; however, additional studies with larger cohorts of affected pregnancies are necessary to confirm these findings.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Anormalidades Congênitas/genética
Exoma/genética
Osteogênese Imperfeita/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico por imagem
Aborto Induzido
Artrogripose/diagnóstico por imagem
Artrogripose/genética
Colágeno Tipo I/genética
Anormalidades Congênitas/diagnóstico por imagem
Feminino
Morte Fetal
Testes Genéticos
Sistema da Enzima Desramificadora do Glicogênio/genética
Doença de Depósito de Glicogênio Tipo IV/diagnóstico por imagem
Doença de Depósito de Glicogênio Tipo IV/genética
Seres Humanos
Masculino
Mutação
Síndromes Orofaciodigitais/diagnóstico por imagem
Síndromes Orofaciodigitais/genética
Osteogênese Imperfeita/diagnóstico por imagem
Gravidez
Proteínas/genética
Estudos Retrospectivos
Análise de Sequência de DNA
Ultrassonografia Pré-Natal
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (COL1A2 protein, human); 0 (Collagen Type I); 0 (Glycogen Debranching Enzyme System); 0 (OFD1 protein, human); 0 (Proteins); EC 2.4.1.18 (GBE1 protein, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150707
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4648


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[PMID]:26008899
[Au] Autor:Boisson B; Laplantine E; Dobbs K; Cobat A; Tarantino N; Hazen M; Lidov HG; Hopkins G; Du L; Belkadi A; Chrabieh M; Itan Y; Picard C; Fournet JC; Eibel H; Tsitsikov E; Pai SY; Abel L; Al-Herz W; Casanova JL; Israel A; Notarangelo LD
[Ad] Endereço:St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
[Ti] Título:Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
[So] Source:J Exp Med;212(6):939-51, 2015 Jun 01.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A patient with multiorgan autoinflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectasia, is homozygous for a mutation in HOIP, the gene encoding the catalytic component of LUBAC. The missense allele (L72P, in the PUB domain) is at least severely hypomorphic, as it impairs HOIP expression and destabilizes the whole LUBAC complex. Linear ubiquitination and NF-κB activation are impaired in the patient's fibroblasts stimulated by IL-1ß or TNF. In contrast, the patient's monocytes respond to IL-1ß more vigorously than control monocytes. However, the activation and differentiation of the patient's B cells are impaired in response to CD40 engagement. These cellular and clinical phenotypes largely overlap those of HOIL-1-deficient patients. Clinical differences between HOIL-1- and HOIP-mutated patients may result from differences between the mutations, the loci, or other factors. Our findings show that human HOIP is essential for the assembly and function of LUBAC and for various processes governing inflammation and immunity in both hematopoietic and nonhematopoietic cells.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica
Ubiquitina-Proteína Ligases/deficiência
[Mh] Termos MeSH secundário: Alelos
Sequência de Aminoácidos
Ligante de CD40/metabolismo
Catálise
Feminino
Fibroblastos/metabolismo
Teste de Complementação Genética
Mutação em Linhagem Germinativa
Doença de Depósito de Glicogênio Tipo IV/patologia
Homozigoto
Seres Humanos
Síndromes de Imunodeficiência/patologia
Inflamação
Linfangiectasia/patologia
Monócitos/metabolismo
Mutação de Sentido Incorreto
NF-kappa B/metabolismo
Homologia de Sequência de Aminoácidos
Fatores de Transcrição
Ubiquitina/química
Ubiquitina-Proteína Ligases/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NF-kappa B); 0 (Transcription Factors); 0 (Ubiquitin); 147205-72-9 (CD40 Ligand); EC 2.3.2.27 (RBCK1 protein, human); EC 2.3.2.27 (RNF31 protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1508
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150527
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20141130



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