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Referências encontradas : 706 [refinar]
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[PMID]:29273555
[Au] Autor:Xu Y; Wang H; Xiao B; Wei W; Liu Y; Ye H; Ying X; Chen Y; Liu X; Ji X; Sun Y
[Ad] Endereço:Center for Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
[Ti] Título:Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.
[So] Source:Gene;645:113-118, 2018 Mar 01.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous duplication rearrangements that involved inverted duplications. The breakpoint sequences were analyzed to investigate the mechanisms of the rearrangement. The two cases shared the same duplication events (Dup-nml-Dup/inv), and both involved microhomology and small insertions at the breakpoints. Additionally, in case 1, SNP sequencing results indicated that the de novo duplication mutation arose in the allele that originated from the grandfather. This study has identified a novel type of DMD complex rearrangement and provides insight into the molecular basis of this genomic rearrangement.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Deficiências do Desenvolvimento/genética
Distrofina/genética
Distrofia Muscular de Duchenne/genética
[Mh] Termos MeSH secundário: Criança
Pontos de Quebra do Cromossomo
Feminino
Seres Humanos
Masculino
Reação em Cadeia da Polimerase Multiplex
Análise de Sequência de DNA
Inversão de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DMD protein, human); 0 (Dystrophin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171224
[St] Status:MEDLINE


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[PMID]:29245229
[Au] Autor:Yu D; Li S; Liu Q; Zhang K
[Ad] Endereço:Genetic Testing Center, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, China.
[Ti] Título:Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
[So] Source:Medicine (Baltimore);96(49):e8729, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INSTRUCTION: Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11.22 q12.1 and 16q11.2 q21, but none of the known pathogenic mutations was detected. CONCLUSIONS: This finding not only expands knowledge on the genetic mechanism of craniosynostosis but also provides a new target for the early diagnosis of this rare disease.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Cromossomos Humanos Par 16/genética
Cromossomos Humanos Par 8/genética
Craniossinostoses/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Cabeça/anormalidades
Seres Humanos
Cariotipagem
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171222
[Lr] Data última revisão:
171222
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171217
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008729


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[PMID]:29070031
[Au] Autor:Wessel K; Suleiman J; Khalaf TE; Kishore S; Rolfs A; El-Hattab AW
[Ad] Endereço:Centogene AG, Schillingallee, Rostock, Germany.
[Ti] Título:17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
[So] Source:BMC Med Genet;18(1):119, 2017 Oct 25.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23.2q23.3 located distal to the TBX2 and TBX4 region. CASE PRESENTATION: We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements). Chromosomal microarray revealed a 2-Mb duplication of chromosome 17q23.2q23.3. Both parents did not have the duplication indicating that this duplication is de novo in the child. CONCLUSIONS: The duplicated region encompasses 16 genes. It is possible that increased dosage of one or more genes in this region is responsible for the observed phenotype. The TANC2 gene is one of the genes in the duplicated region.It encodes a member of the TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing) family which includes TANC1 and TANC2. These proteins are highly expressed in brain and play major roles in synapsis regulation. Hence, it is suggestive that TANC2 is the likely candidate gene responsible for the observed phenotype as an increased TANC2 dosage can potentially alter synapsis, resulting in neuronal dysfunction and the neurobehavioral phenotype observed in this child with 17q23.2q23.3 duplication.
[Mh] Termos MeSH primário: Ataxia/genética
Duplicação Cromossômica
Cromossomos Humanos Par 17/química
Deficiências do Desenvolvimento/genética
Transtornos de Aprendizagem/genética
Transtornos Psicomotores/genética
Distúrbios da Fala/genética
[Mh] Termos MeSH secundário: Ataxia/diagnóstico
Ataxia/fisiopatologia
Criança
Deficiências do Desenvolvimento/diagnóstico
Deficiências do Desenvolvimento/fisiopatologia
Eletroencefalografia
Dosagem de Genes
Expressão Gênica
Seres Humanos
Transtornos de Aprendizagem/diagnóstico
Transtornos de Aprendizagem/fisiopatologia
Masculino
Fenótipo
Proteínas/genética
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/fisiopatologia
Convulsões/diagnóstico
Convulsões/genética
Convulsões/fisiopatologia
Comportamento Autodestrutivo/diagnóstico
Comportamento Autodestrutivo/genética
Comportamento Autodestrutivo/fisiopatologia
Distúrbios da Fala/diagnóstico
Distúrbios da Fala/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (TANC2 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171027
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0479-3


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[PMID]:29061174
[Au] Autor:Al Dhaibani MA; Allingham-Hawkins D; El-Hattab AW
[Ad] Endereço:Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
[Ti] Título:De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
[So] Source:BMC Med Genet;18(1):118, 2017 Oct 23.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36.1q36.2 triplication that is proximal to the 7q36.3 region. In addition to the clinical description, we discuss the genes located in the triplicated region. CASE PRESENTATION: We report a 22 month old male child with a de novo 1.35 Mb triplication at 7q36.1q36.2. His prenatal course was complicated by oligohydramnios, intrauterine growth restriction, and decreased fetal movement. Hypotonia, respiratory distress, and feeding difficulty were observed in the neonatal period. He also had developmental delay, cardiovascular malformation, growth failure with microcephaly, short stature, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, bifid uvula, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate. CONCLUSIONS: The child presented here had developmental delay, distinctive facial features, multiple congenital anomalies, and 7q36.1q36.2 triplication. This triplication, which was found to be de novo, has not been previously described and is believed to result in the observed phenotype. The triplicated region harbors the GALNTL5, GALNT11, KMT2C, XRCC2, and ACTR3B genes. GALNT11 encodes a membrane-bound polypeptide N-acetylgalactosaminyltransferase that can O-glycosylate NOTCH1 leading to the activation of the Notch signaling pathway. Therefore, increased GALNT11 dosage can potentially alter the Notch signaling pathway explaining the pathogenicity of 7q36 triplication. Studying further cases with similar genomic rearrangements is needed to make final conclusions about the pathogenicity of this triplication.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Duplicação Cromossômica
Cromossomos Humanos Par 7/genética
[Mh] Termos MeSH secundário: Amplificação de Genes
Seres Humanos
Lactente
Masculino
N-Acetilgalactosaminiltransferases/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.1.- (GALNT11 protein, human); EC 2.4.1.- (N-Acetylgalactosaminyltransferases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171025
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0482-8


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[PMID]:28704368
[Au] Autor:Arbogast T; Iacono G; Chevalier C; Afinowi NO; Houbaert X; van Eede MC; Laliberte C; Birling MC; Linda K; Meziane H; Selloum M; Sorg T; Nadif Kasri N; Koolen DA; Stunnenberg HG; Henkelman RM; Kopanitsa M; Humeau Y; De Vries BBA; Herault Y
[Ad] Endereço:Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.
[Ti] Título:Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
[So] Source:PLoS Genet;13(7):e1006886, 2017 Jul.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21.31 syntenic region; and 3) a heterozygous Kansl1 (Kans1+/-) model. We found altered weight, general activity, social behaviors, object recognition, and fear conditioning memory associated with craniofacial and brain structural changes observed in both Del/+ and Dup/+ animals. By investigating hippocampus function, we showed synaptic transmission defects in Del/+ and Dup/+ mice. Mutant mice with a heterozygous loss-of-function mutation in Kansl1 displayed similar behavioral and anatomical phenotypes compared to Del/+ mice with the exception of sociability phenotypes. Genes controlling chromatin organization, synaptic transmission and neurogenesis were upregulated in the hippocampus of Del/+ and Kansl1+/- animals. Our results demonstrate the implication of KANSL1 in the manifestation of KdVS phenotypes and extend substantially our knowledge about biological processes affected by these mutations. Clear differences in social behavior and gene expression profiles between Del/+ and Kansl1+/- mice suggested potential roles of other genes affected by the 17q21.31 deletion. Together, these novel mouse models provide new genetic tools valuable for the development of therapeutic approaches.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Duplicação Cromossômica/genética
Cognição
Deficiência Intelectual/genética
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Animais
Peso Corporal
Encéfalo/metabolismo
Encéfalo/ultraestrutura
Deleção Cromossômica
Estruturas Cromossômicas/genética
Estruturas Cromossômicas/metabolismo
Cromossomos Humanos Par 17/genética
Variações do Número de Cópias de DNA
Modelos Animais de Doenças
Epigênese Genética
Feminino
Deleção de Genes
Rearranjo Gênico
Hipocampo/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Plasticidade Neuronal/genética
Proteínas Nucleares/metabolismo
Transmissão Sináptica/genética
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KANSL1 protein, mouse); 0 (Nuclear Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170714
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006886


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[PMID]:28671949
[Au] Autor:Lucas JM; Roest Crollius H
[Ad] Endereço:IBENS, Département de Biologie, Ecole Normale Supérieure, CNRS, Inserm, PSL Research, University, Paris, France.
[Ti] Título:High precision detection of conserved segments from synteny blocks.
[So] Source:PLoS One;12(7):e0180198, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A conserved segment, i.e. a segment of chromosome unbroken during evolution, is an important operational concept in comparative genomics. Until now, algorithms that are designed to identify conserved segments often return synteny blocks that overlap, synteny blocks that include micro-rearrangements or synteny blocks erroneously short. Here we present definitions of conserved segments and synteny blocks independent of any heuristic method and we describe four new post-processing strategies to refine synteny blocks into accurate conserved segments. The first strategy identifies micro-rearrangements, the second strategy identifies mono-genic conserved segments, the third returns non-overlapping segments and the fourth repairs incorrect ruptures of synteny. All these refinements are implemented in a new version of PhylDiag that has been benchmarked against i-ADHoRe 3.0 and Cyntenator, based on a realistic simulated evolution and true simulated conserved segments.
[Mh] Termos MeSH primário: Algoritmos
Cromossomos
[Mh] Termos MeSH secundário: Animais
Duplicação Cromossômica
Reprodutibilidade dos Testes
Software
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170704
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180198


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[PMID]:28625614
[Au] Autor:Kjeldsen E
[Ad] Endereço:Cancercytogenetic Section, Hemodiagnostic Laboratory, Department of Hematology, Center for Cancer and Inflammation, Aarhus University Hospital, Tage Hansens Gade 2, Ent. 4A, DK-8000 Aarhus C, Denmark. Electronic address: Eigil.Kjeldsen@clin.au.dk.
[Ti] Título:Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia.
[So] Source:Exp Mol Pathol;103(1):14-25, 2017 Aug.
[Is] ISSN:1096-0945
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:We studied an adult with de novo acute monocytic leukemia and a dismal outcome where her leukemic cells harbored an acquired rare jumping translocation (JT). We used oligo-based array CGH (oaCGH) analysis, fluorescence in situ hybridization (FISH), and 24-color karyotyping to enhance the characterization of the JT. G-banding detected a JT involving the 3q13.3-qter chromosomal segment and the recipient chromosomal regions 17p, 8q, and 15q. Each clone with JT was associated with trisomy 8. oaCGH analysis revealed an additional submicroscopic deletion in 3q13.31 as well as small subtelomeric duplications on several chromosomes. Locus-specific FISH with BAC-based probes from the 3q13.31-q13.32 region showed great heterogeneity. Telomere FISH revealed significantly reduced telomeric content in the aberrant cells with JT compared with cytogenetically normal cells at diagnosis and in normal cells at complete remission. A literature search revealed two previous de novo AML-M5 cases of JT involving the 3q13.3-qter chromosomal segment and concomitant trisomy 8. In addition, a case with an unbalanced der(Y)t(Y;3)(q12;q13.31) and additional trisomy 8 was previously reported in a patient with de novo AML-M5. All of these cases had a dismal outcome. In the present case, and in the der(Y)t(Y;3) case, a concurrent submicroscopic deletion at 3q13.31 was observed affecting the TUSC7 gene. Duplication of 3q13.31-qter might be a non-random chromosomal abnormality with concomitant submicroscopic deletion at 3q13.31 occurring in rare cases of acute monocytic leukemia, being associated with adverse prognosis. The impact of shortened telomeres in forming the JT is reviewed.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 3/genética
Leucemia Monocítica Aguda/genética
Translocação Genética
[Mh] Termos MeSH secundário: Idoso
Deleção Cromossômica
Duplicação Cromossômica
Cromossomos Humanos Par 8/genética
Clonagem Molecular
Hibridização Genômica Comparativa
Variações do Número de Cópias de DNA
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Cariotipagem
Leucemia Monocítica Aguda/diagnóstico
Prognóstico
Trissomia/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE


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[PMID]:28605748
[Au] Autor:Tassano E; Giacomini T; Severino M; Gamucci A; Fiorio P; Gimelli G; Ronchetto P
[Ad] Endereço:Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.
[Ti] Título:Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
[So] Source:Cytogenet Genome Res;152(1):22-28, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Anormalidades Craniofaciais/patologia
Deficiência Intelectual/patologia
Transtornos de Aprendizagem/patologia
Neurofibromatoses/patologia
[Mh] Termos MeSH secundário: Encéfalo/patologia
Criança
Deleção Cromossômica
Cromossomos Humanos/genética
Cromossomos Humanos Par 17
Hibridização Genômica Comparativa
Facies
Feminino
Seres Humanos
Lactente
Recém-Nascido
Cariotipagem
Imagem por Ressonância Magnética
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1159/000477292


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[PMID]:28605459
[Au] Autor:Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
[Ad] Endereço:Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 77, Sweden.
[Ti] Título:Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
[So] Source:J Clin Endocrinol Metab;102(8):3029-3039, 2017 Aug 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11.2 deletions) obesity. Objective: To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue. Design and Setting: A case-control study in a tertiary academic center. Participants: CNV analysis was performed on 90 subjects with early-onset obesity and 67 normal-weight controls. Subcutaneous adipose tissue from body mass index-discordant siblings was used for the gene expression analyses. Main Outcome Measures: We used custom high-density array comparative genomic hybridization with exon resolution in 1989 genes, including all known obesity loci. The expression of candidate genes was assessed using microarray analysis of messenger RNA from subcutaneous adipose tissue. Results: We identified rare CNVs in 17 subjects (19%) with obesity and 2 controls (3%). In three cases (3%), the identified variant involved a known syndromic lesion (22q11.21 duplication, 1q21.1 deletion, and 16p11.2 deletion, respectively), although the others were not known. Seven CNVs in 10 families were inherited and segregated with obesity. Expression analysis of 37 candidate genes showed discordant expression for 10 genes (PCM1, EFEMP1, MAMLD1, ACP6, BAZ2B, SORBS1, KLF15, MACROD2, ATR, and MBD5). Conclusions: Rare CNVs contribute possibly pathogenic alleles to a substantial fraction of children with early-onset obesity. The involved genes might provide insights into pathogenic mechanisms and involved cellular pathways. These findings highlight the importance of CNV screening in children with early-onset obesity.
[Mh] Termos MeSH primário: Obesidade Pediátrica/genética
RNA Mensageiro/metabolismo
Gordura Subcutânea/metabolismo
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Fosfatase Ácida/genética
Adolescente
Adulto
Proteínas Mutadas de Ataxia Telangiectasia/genética
Transtorno Autístico/genética
Autoantígenos/genética
Estudos de Casos e Controles
Proteínas de Ciclo Celular/genética
Criança
Pré-Escolar
Deleção Cromossômica
Transtornos Cromossômicos/genética
Duplicação Cromossômica/genética
Cromossomos Humanos Par 1/genética
Cromossomos Humanos Par 16/genética
Cromossomos Humanos Par 22/genética
Hibridização Genômica Comparativa
Variações do Número de Cópias de DNA
Enzimas Reparadoras do DNA/genética
Proteínas de Ligação a DNA/genética
Síndrome de DiGeorge/genética
Proteínas da Matriz Extracelular/genética
Feminino
Seres Humanos
Hidrolases/genética
Deficiência Intelectual/genética
Fatores de Transcrição Kruppel-Like/genética
Masculino
Megalencefalia/genética
Proteínas dos Microfilamentos/genética
Proteínas Nucleares/genética
Proteínas/genética
Irmãos
Fatores de Transcrição/genética
Transcriptoma
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Autoantigens); 0 (BAZ2B protein, human); 0 (Cell Cycle Proteins); 0 (DNA-Binding Proteins); 0 (EFEMP1 protein, human); 0 (Extracellular Matrix Proteins); 0 (KLF15 protein, human); 0 (Kruppel-Like Transcription Factors); 0 (MACROD2 protein, human); 0 (MAMLD1 protein, human); 0 (MBD5 protein, human); 0 (Microfilament Proteins); 0 (Nuclear Proteins); 0 (PCM1 protein, human); 0 (Proteins); 0 (RNA, Messenger); 0 (SORBS1 protein, human); 0 (Transcription Factors); EC 2.7.11.1 (ATR protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins); EC 3.- (Hydrolases); EC 3.1.3.2 (Acid Phosphatase); EC 3.1.3.2 (acid phosphatase-like protein 1, human); EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00565


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[PMID]:28595195
[Au] Autor:Capela de Matos RR; Ney Garcia DR; Cifoni E; Othman MAK; Tavares de Souza M; Carboni EK; Ferreira GM; Liehr T; Ribeiro RC; M Silva ML
[Ad] Endereço:Department of Cytogenetics, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, Brazil.
[Ti] Título:GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies.
[So] Source:Cytogenet Genome Res;152(1):33-37, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases. Here, we describe a 7- month-old girl with a history of fever and severe diarrhea, and a physical examination remarkable for pallor and hepatosplenomegaly. A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23.3),dup(13)(q31q34),+14,+19,+21,+22 was characterized by high-resolution molecular cytogenetic approaches. Fluorescence in situ hybridization, multiplex-FISH, and multicolor chromosome banding were applied, revealing 2 reverse MLLT3-KMT2A fusions and a duplication of the GAS6 oncogene. Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Análise Citogenética/métodos
Diploide
Peptídeos e Proteínas de Sinalização Intercelular/genética
Cariótipo
Leucemia Mieloide Aguda/genética
Proteínas Nucleares/genética
Oncogenes
[Mh] Termos MeSH secundário: Feminino
Rearranjo Gênico
Histona-Lisina N-Metiltransferase/genética
Seres Humanos
Lactente
Proteína de Leucina Linfoide-Mieloide/genética
Translocação Genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Intercellular Signaling Peptides and Proteins); 0 (MLL protein, human); 0 (MLLT3 protein, human); 0 (Nuclear Proteins); 0 (growth arrest-specific protein 6); 149025-06-9 (Myeloid-Lymphoid Leukemia Protein); EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1159/000477108



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