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Pesquisa : A11.284.187.520.300.325.350 [Categoria DeCS]
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  1 / 2990 MEDLINE  
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[PMID]:29073906
[Au] Autor:Yang A; Kim J; Ki CS; Hong SH; Cho SY; Jin DK
[Ad] Endereço:Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.
[Ti] Título:HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
[So] Source:BMC Med Genet;18(1):121, 2017 Oct 26.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis. CASE PRESENTATION: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagnosed with HDR syndrome by clinical findings, which were confirmed by molecular genetic testing. Direct sequencing of the GATA3 gene showed a heterozygous 2-bp deletion (c.1201_1202delAT), which is predicted to cause a frameshift of the reading frame (p.Met401Valfs*106). CONCLUSIONS: To our knowledge, this is the first case of HDR syndrome with a novel de novo variant mimicking a congenital X-linked stapes gusher syndrome. Novel mutations and the diversity of clinical manifestations expand the genotypic and phenotypic spectrum of HDR syndrome. Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and deafness. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 10/química
Implante Coclear
Mutação da Fase de Leitura
Fator de Transcrição GATA3/genética
Perda Auditiva Neurossensorial/diagnóstico
Hipoparatireoidismo/diagnóstico
Nefrose/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Expressão Gênica
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/genética
Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia
Haploinsuficiência
Perda Auditiva Condutiva/diagnóstico
Perda Auditiva Condutiva/genética
Perda Auditiva Condutiva/fisiopatologia
Perda Auditiva Neurossensorial/genética
Perda Auditiva Neurossensorial/fisiopatologia
Perda Auditiva Neurossensorial/cirurgia
Heterozigoto
Seres Humanos
Hipoparatireoidismo/genética
Hipoparatireoidismo/fisiopatologia
Hipoparatireoidismo/cirurgia
Lactente
Masculino
Nefrose/genética
Nefrose/fisiopatologia
Nefrose/cirurgia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA3 Transcription Factor); 0 (GATA3 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:171028
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0484-6


  2 / 2990 MEDLINE  
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[PMID]:28710771
[Au] Autor:Baysan M; Woolard K; Cam MC; Zhang W; Song H; Kotliarova S; Balamatsias D; Linkous A; Ahn S; Walling J; Belova GI; Fine HA
[Ad] Endereço:Department of Computer Science & Engineering, Istanbul Sehir University, Istanbul, 34662, Turkey.
[Ti] Título:Detailed longitudinal sampling of glioma stem cells in situ reveals Chr7 gain and Chr10 loss as repeated events in primary tumor formation and recurrence.
[So] Source:Int J Cancer;141(10):2002-2013, 2017 Nov 15.
[Is] ISSN:1097-0215
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Intratumoral heterogeneity at the genetic, epigenetic, transcriptomic, and morphologic levels is a commonly observed phenomenon in many aggressive cancer types. Clonal evolution during tumor formation and in response to therapeutic intervention can be predicted utilizing reverse engineering approaches on detailed genomic snapshots of heterogeneous patient tumor samples. In this study, we developed an extensive dataset for a GBM case via the generation of polyclonal and monoclonal glioma stem cell lines from initial diagnosis, and from multiple sections of distant tumor locations of the deceased patient's brain following tumor recurrence. Our analyses revealed the tissue-wide expansion of a new clone in the recurrent tumor and chromosome 7 gain and chromosome 10 loss as repeated genomic events in primary and recurrent disease. Moreover, chromosome 7 gain and chromosome 10 loss produced similar alterations in mRNA expression profiles in primary and recurrent tumors despite possessing other highly heterogeneous and divergent genomic alterations between the tumors. We identified ETV1 and CDK6 as putative candidate genes, and NFKB (complex), IL1B, IL6, Akt and VEGF as potential signaling regulators, as potentially central downstream effectors of chr7 gain and chr10 loss. Finally, the differences caused by the transcriptomic shift following gain of chromosome 7 and loss of chromosome 10 were consistent with those generally seen in GBM samples compared to normal brain in large-scale patient-tumor data sets.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Neoplasias Encefálicas/genética
Cromossomos Humanos Par 10/genética
Cromossomos Humanos Par 7/genética
Glioma/genética
Recidiva Local de Neoplasia/genética
Células-Tronco Neoplásicas/metabolismo
[Mh] Termos MeSH secundário: Animais
Neoplasias Encefálicas/patologia
Linhagem Celular Tumoral
Aberrações Cromossômicas
Perfilação da Expressão Gênica
Genômica/métodos
Glioma/patologia
Xenoenxertos
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Camundongos
Recidiva Local de Neoplasia/patologia
Células-Tronco Neoplásicas/patologia
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[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:170716
[St] Status:MEDLINE
[do] DOI:10.1002/ijc.30887


  3 / 2990 MEDLINE  
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[PMID]:28486223
[Au] Autor:Coci EG; Auhuber A; Langenbach A; Mrasek K; Riedel J; Leenen A; Lücke T; Liehr T
[Ad] Endereço:Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, Celle, Germany.
[Ti] Título:Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.
[So] Source:Cytogenet Genome Res;151(4):171-178, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.
[Mh] Termos MeSH primário: Transtorno Autístico/genética
Cromossomos Humanos Par 10/genética
Cromossomos Humanos Par 22/genética
Epilepsia/genética
Transtornos do Neurodesenvolvimento/genética
Distúrbios da Fala/genética
Translocação Genética/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Adolescente
Criança
Deleção Cromossômica
Hibridização Genômica Comparativa/métodos
Feminino
Seres Humanos
Cariotipagem/métodos
Masculino
Síndrome
Trissomia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE
[do] DOI:10.1159/000471501


  4 / 2990 MEDLINE  
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[PMID]:28478456
[Au] Autor:Alesi V; Orlando V; Genovese S; Loddo S; Pisaneschi E; Pompili D; Surace C; Restaldi F; Digilio MC; Dallapiccola B; Dentici ML; Novelli A
[Ad] Endereço:Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[Ti] Título:Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
[So] Source:Cytogenet Genome Res;151(4):179-185, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21.1q23.31 duplication, due to recombination of a paternal CCR. Application of several cytogenetic and molecular techniques allowed determining the biological bases of the rearrangement, understanding the underlying chromosomal mechanism, and assessing the reproductive risk.
[Mh] Termos MeSH primário: Transtornos Cromossômicos/genética
Cromossomos Humanos Par 10/genética
Rearranjo Gênico/genética
Meiose/genética
Recombinação Genética/genética
Trissomia/genética
[Mh] Termos MeSH secundário: Adolescente
Citogenética/instrumentação
Seres Humanos
Cariotipagem/métodos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170508
[St] Status:MEDLINE
[do] DOI:10.1159/000475490


  5 / 2990 MEDLINE  
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[PMID]:28434922
[Au] Autor:Guaraldi F; Di Nardo G; Tarani L; Bertelli L; Susca FC; Bagnulo R; Resta N
[Ad] Endereço:Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Italy. Electronic address: federica.guaraldi@yahoo.it.
[Ti] Título:Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
[So] Source:Eur J Med Genet;60(7):380-384, 2017 Jul.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i.e. thyroiditis and celiac disease), associated with JP, cardiac defects and epilepsy, who carries a de novo heterozygous 10q23.1q23.31 deletion. The dysregulation of the PI3K/Akt pathway is advanced as the putative mechanism connecting autoimmune, malformative and neoplastic disorders. A literature review of clinical manifestation, gene alterations and the treatment of patients with 10q23 deletion is also provided, highlighting the importance of comprehensive, long-term, multi-disciplinary management, aimed at early identification and treatment of both intestinal and extraintestinal disorders.
[Mh] Termos MeSH primário: Doença Celíaca/genética
Deleção Cromossômica
Cromossomos Humanos Par 10/genética
Polipose Intestinal/congênito
Síndromes Neoplásicas Hereditárias/genética
Tireoidite Autoimune/genética
[Mh] Termos MeSH secundário: Doença Celíaca/diagnóstico
Criança
Feminino
Seres Humanos
Polipose Intestinal/diagnóstico
Polipose Intestinal/genética
Síndromes Neoplásicas Hereditárias/diagnóstico
Fosfatidilinositol 3-Quinases/genética
Fosfatidilinositol 3-Quinases/metabolismo
Proteínas Proto-Oncogênicas c-akt/genética
Proteínas Proto-Oncogênicas c-akt/metabolismo
Transdução de Sinais
Tireoidite Autoimune/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170425
[St] Status:MEDLINE


  6 / 2990 MEDLINE  
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[PMID]:28422522
[Au] Autor:Cao L; Yang W; Wang S; Chen C; Zhang X; Luo Y
[Ad] Endereço:1 The Research Center for Medical Genomics, Key Laboratory of Cell Biology, Ministry of Public Health, Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University , Shenyang, China .
[Ti] Título:Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.
[So] Source:Genet Test Mol Biomarkers;21(6):357-362, 2017 Jun.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus. Real-time quantitative polymerase chain reaction (qPCR) assays and inverse PCR were performed to determine the copy number variations and to amplify junction breakpoints in affected individuals. Candidate genes were further screened for mutations through Sanger sequencing. RESULTS: A potential haplotype in the SHFM3 locus was shared by all affected individuals. qPCR and inverse PCR showed a microduplication at chromosome 10q24 spanning 488,859 bp and encompassing five entire genes, LBX1, BTRC, POLL, DPCD, and FBXW4, that co-segregated with the SHFM phenotype. No coding or splice-site mutations of these genes were found. CONCLUSION: We determined the molecular basis of SHFM in a Chinese family by haplotype analysis, qPCR, inverse PCR, and Sanger sequencing. Our work extends the clinical spectrum of SHFM3; provides a fine-scale delineation of the chromosomal breakpoints helping to narrow the critical region of SHFM3; and facilitates an understanding of the mechanisms underlying abnormal limb development and extraskeletal anomalies.
[Mh] Termos MeSH primário: Deformidades Congênitas dos Membros/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
China
Cromossomos Humanos Par 10/genética
Variações do Número de Cópias de DNA
Feminino
Deformidades Congênitas do Pé/genética
Duplicação Gênica/genética
Deformidades Congênitas da Mão/genética
Haplótipos
Seres Humanos
Masculino
Mutação/genética
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:170420
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0415


  7 / 2990 MEDLINE  
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[PMID]:28284480
[Au] Autor:Heide S; Keren B; Billette de Villemeur T; Chantot-Bastaraud S; Depienne C; Nava C; Mignot C; Jacquette A; Fonteneau E; Lejeune E; Mach C; Marey I; Whalen S; Lacombe D; Naudion S; Rooryck C; Toutain A; Caignec CL; Haye D; Olivier-Faivre L; Masurel-Paulet A; Thauvin-Robinet C; Lesne F; Faudet A; Ville D; des Portes V; Sanlaville D; Siffroi JP; Moutard ML; Héron D
[Ad] Endereço:APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225,
[Ti] Título:Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
[So] Source:J Pediatr;185:160-166.e1, 2017 Jun.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosum abnormality/intellectual disability STUDY DESIGN: We screened 149 patients with corpus callosum abnormality/intellectual disability using Illumina SNP arrays. RESULTS: In 20 patients (13%), we have identified at least 1 CNV that likely contributes to corpus callosum abnormality/intellectual disability phenotype. We confirmed that the most common rearrangement in corpus callosum abnormality/intellectual disability is inverted duplication with terminal deletion of the 8p chromosome (3.2%). In addition to the identification of known recurrent CNVs, such as deletions 6qter, 18q21 (including TCF4), 1q43q44, 17p13.3, 14q12, 3q13, 3p26, and 3q26 (including SOX2), our analysis allowed us to refine the 2 known critical regions associated with 8q21.1 deletion and 19p13.1 duplication relevant for corpus callosum abnormality; report a novel 10p12 deletion including ZEB1 recently implicated in corpus callosum abnormality with corneal dystrophy; and) report a novel pathogenic 7q36 duplication encompassing SHH. In addition, 66 variants of unknown significance were identified in 57 patients encompassed candidate genes. CONCLUSIONS: Our results confirm the relevance of using microarray analysis as first line test in patients with corpus callosum abnormality/intellectual disability.
[Mh] Termos MeSH primário: Agenesia do Corpo Caloso/genética
Variações do Número de Cópias de DNA
Deficiência Intelectual/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética
Proteínas de Ciclo Celular/genética
Criança
Pré-Escolar
Deleção Cromossômica
Duplicação Cromossômica
Cromossomos Humanos Par 10
Cromossomos Humanos Par 19
Cromossomos Humanos Par 3
Cromossomos Humanos Par 7
Cromossomos Humanos Par 8
Feminino
Proteínas Hedgehog/genética
Seres Humanos
Masculino
Análise em Microsséries
Polimorfismo de Nucleotídeo Único
Estudos Prospectivos
Adulto Jovem
Homeobox 1 de Ligação a E-box em Dedo de Zinco/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Basic Helix-Loop-Helix Transcription Factors); 0 (Cell Cycle Proteins); 0 (HEY1 protein, human); 0 (Hedgehog Proteins); 0 (SHH protein, human); 0 (ZEB1 protein, human); 0 (Zinc Finger E-box-Binding Homeobox 1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170313
[St] Status:MEDLINE


  8 / 2990 MEDLINE  
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[PMID]:28102624
[Au] Autor:Ohta S; Isojima T; Mizuno Y; Kato M; Mimaki M; Seki M; Sato Y; Ogawa S; Takita J; Kitanaka S; Oka A
[Ad] Endereço:Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
[Ti] Título:Partial monosomy of 10p and duplication of another chromosome in two patients.
[So] Source:Pediatr Int;59(1):99-102, 2017 Jan.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11.7 Mb and a 15q terminal duplication of 8.2 Mb. In patient 2, SNP array and FISH indicated a 10p terminal deletion of 12.6 Mb and a 7q terminal duplication of 1.9 Mb. This is the first case report of monosomy 10p combined with trisomy 15q (patient 1). Because the clinical heterogeneity of the 10p deletion syndrome would be affected by duplication of another chromosome, we emphasize that SNP/microarray analysis is necessary to confirm genotype-phenotype correlation.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Transtornos Cromossômicos/genética
Polimorfismo de Nucleotídeo Único
Trissomia/genética
[Mh] Termos MeSH secundário: Adulto
Criança
Pré-Escolar
Deleção Cromossômica
Cromossomos Humanos Par 10/genética
Cromossomos Humanos Par 15/genética
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Translocação Genética
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170510
[Lr] Data última revisão:
170510
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170120
[St] Status:MEDLINE
[do] DOI:10.1111/ped.13181


  9 / 2990 MEDLINE  
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[PMID]:28087245
[Au] Autor:Hossain MA; Yanagisawa H; Miyajima T; Wu C; Takamura A; Akiyama K; Itagaki R; Eto K; Iwamoto T; Yokoi T; Kurosawa K; Numabe H; Eto Y
[Ad] Endereço:Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan. Electronic address: drarif_04@hotmail.com.
[Ti] Título:The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
[So] Source:Mol Genet Metab;120(3):173-179, 2017 Mar.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure. The patient has two sisters with no significant medical illness. However, her nephew has acroparesthesia, anhidrosis, and school phobia, and her niece shows mild phenotypes. The patient's enzyme analysis showed very low α-galactosidase A (α-gal A) activity in dried blood spot (DBS), lymphocytes, and skin fibroblasts with massive excretion of Gb3 and Gb2 in urine and lyso-Gb3 in DBS and plasma. Electron microscopic examination showed a large accumulation of sphingolipids in vascular endothelial cells and keratinocytes. Chromosomal analysis and comparative genomic hybridization microarray showed 10q26 terminal deletion. Molecular data showed a novel heterozygous stop codon mutation in exon 1 of the GLA gene in her sisters and niece, and a hemizygous state in her nephew. When we checked the methylation status, we found her non-mutated allele in the GLA gene was methylated. However, the non-mutated alleles of her sisters were non-methylated, and those of her niece were partially methylated. The chromosomal and methylation study may speculate the severity of her clinical phenotypes.
[Mh] Termos MeSH primário: Códon sem Sentido
Metilação de DNA
Doença de Fabry/patologia
Transtornos de Aprendizagem/patologia
alfa-Galactosidase/sangue
[Mh] Termos MeSH secundário: Adulto
Alelos
Deleção Cromossômica
Cromossomos Humanos Par 10/genética
Cromossomos Humanos Par 10/metabolismo
Hibridização Genômica Comparativa
Doença de Fabry/genética
Doença de Fabry/metabolismo
Facies
Feminino
Heterozigoto
Seres Humanos
Transtornos de Aprendizagem/genética
Transtornos de Aprendizagem/metabolismo
Linhagem
Fenótipo
Análise de Sequência de DNA
alfa-Galactosidase/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.22 (alpha-galactosidase A, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170115
[St] Status:MEDLINE


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[PMID]:27694927
[Au] Autor:Vijayakrishnan J; Kumar R; Henrion MY; Moorman AV; Rachakonda PS; Hosen I; da Silva Filho MI; Holroyd A; Dobbins SE; Koehler R; Thomsen H; Irving JA; Allan JM; Lightfoot T; Roman E; Kinsey SE; Sheridan E; Thompson PD; Hoffmann P; Nöthen MM; Heilmann-Heimbach S; Jöckel KH; Greaves M; Harrison CJ; Bartram CR; Schrappe M; Stanulla M; Hemminki K; Houlston RS
[Ad] Endereço:Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.
[Ti] Título:A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.
[So] Source:Leukemia;31(3):573-579, 2017 Mar.
[Is] ISSN:1476-5551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype of ALL, B-cell precursor ALL (BCP-ALL), we conducted a meta-analysis of two GWASs with imputation using 1000 Genomes and UK10K Project data as reference (totaling 1658 cases and 7224 controls). After genotyping an additional 2525 cases and 3575 controls, we identify new susceptibility loci for BCP-ALL mapping to 10q26.13 (rs35837782, LHPP, P=1.38 × 10 ) and 12q23.1 (rs4762284, ELK3, P=8.41 × 10 ). We also provide confirmatory evidence for the existence of independent risk loci at 9p21.3, but show that the association marked by rs77728904 can be accounted for by linkage disequilibrium with the rare high-impact CDKN2A p.Ala148Thr variant rs3731249. Our data provide further insights into genetic susceptibility to ALL and its biology.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 10
Cromossomos Humanos Par 12
Loci Gênicos
Predisposição Genética para Doença
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Criança
Pré-Escolar
Montagem e Desmontagem da Cromatina
Deleção Cromossômica
Biologia Computacional/métodos
Feminino
Perfilação da Expressão Gênica
Estudo de Associação Genômica Ampla
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Masculino
Anotação de Sequência Molecular
Polimorfismo de Nucleotídeo Único
Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade
Locos de Características Quantitativas
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE
[do] DOI:10.1038/leu.2016.271



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