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Pesquisa : C05.116.099.708.582 [Categoria DeCS]
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  1 / 154 MEDLINE  
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[PMID]:28468609
[Au] Autor:Smaili W; Elalaoui SC; Meier S; Zerkaoui M; Sefiani A; Heinimann K
[Ad] Endereço:Centre de Génomique Humaine - Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco.
[Ti] Título:A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
[So] Source:BMC Med Genet;18(1):50, 2017 05 03.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation. CASE PRESENTATION: We report the first case of a Moroccan family, a father and his three children, in which the diagnosis of type III TRPS was suspected based on severe clinical and radiological features. Molecular analysis of the TRPS1 gene revealed a novel missense mutation in exon 6, (p.Ala932Ser), located in the GATA-type DNA-binding zinc finger domain. CONCLUSION: Our observations in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
Dedos/anormalidades
Doenças do Cabelo/genética
Síndrome de Langer-Giedion/genética
Nariz/anormalidades
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Seres Humanos
Masculino
Marrocos
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171231
[Lr] Data última revisão:
171231
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0413-8


  2 / 154 MEDLINE  
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[PMID]:27826100
[Au] Autor:Solc R; Klugerova M; Vcelak J; Baxova A; Kuklik M; Vseticka J; Beharka R; Hirschfeldova K
[Ad] Endereço:Department of Anthropology and Human Genetics, Faculty of Science, Charles University in Prague, Vinicna 7, 128 43 Prague, Czech Republic. Electronic address: roman.solc@natur.cuni.cz.
[Ti] Título:Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
[So] Source:Clin Chim Acta;464:30-36, 2017 Jan.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The TRPS1 protein is a potent regulator of proliferation, differentiation, and apoptosis. The TRPS1 gene aberrations are strongly associated with rare trichorhinophalangeal syndrome (TRPS) development. We have conducted MLPA analysis to capture deletion within the crucial 8q24.1 chromosomal region in combination with mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR sequences in nine TRPS patients. Low complexity or extent of untranslated regulatory sequences avoided them from analysis in previous studies. Amplicon based next generation sequencing used in our study bridge over these technical limitations. Finally, we have made extended in silico analysis of TRPS1 gene regulatory sequences organization. Single contiguous deletion and an intragenic deletion intervening several exons were detected. Mutation analysis revealed five TRPS1 gene aberrations (two structural rearrangements, two nonsense mutations, and one missense substitution) reaching the overall detection rate of 78%. Several polymorphic variants were detected within the analysed regulatory sequences but without proposed pathogenic effect. In silico analysis suggested alternative promoter usage and diverse expression effectivity for different TRPS1 transcripts. Haploinsufficiency of TRPS1 gene was responsible for most of the TRPS phenotype. Structure of TRPS1 gene regulatory sequences is indicative of generally low single allele expression and its tight control.
[Mh] Termos MeSH primário: Regiões 3´ não Traduzidas/genética
Regiões 5´ não Traduzidas/genética
Análise Mutacional de DNA
Proteínas de Ligação a DNA/genética
Regiões Promotoras Genéticas/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Aminoácidos
Sequência de Bases
Criança
Pré-Escolar
Proteínas de Ligação a DNA/química
Feminino
Haploinsuficiência
Seres Humanos
Síndrome de Langer-Giedion/genética
Masculino
Fatores de Transcrição/química
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3' Untranslated Regions); 0 (5' Untranslated Regions); 0 (DNA-Binding Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170208
[Lr] Data última revisão:
170208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161110
[St] Status:MEDLINE


  3 / 154 MEDLINE  
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[PMID]:27706911
[Au] Autor:Kunotai W; Ananpornruedee P; Lubinsky M; Pruksametanan A; Kantaputra PN
[Ad] Endereço:Department of Oral and Maxillofacial Surgery, Chonburi Hospital, Chonburi, Thailand.
[Ti] Título:Making extra teeth: Lessons from a TRPS1 mutation.
[So] Source:Am J Med Genet A;173(1):99-107, 2017 Jan.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively. The final pathway resulting in supernumerary teeth seems to involve Wnt, a morphogen active during many stages of development. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
Mutação
Dente Supranumerário/diagnóstico
Dente Supranumerário/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Análise Mutacional de DNA
Proteínas de Ligação a DNA/metabolismo
Facies
Feminino
Dedos/anormalidades
Dedos/cirurgia
Estudos de Associação Genética
Doenças do Cabelo/diagnóstico
Doenças do Cabelo/genética
Doenças do Cabelo/cirurgia
Heterozigoto
Seres Humanos
Síndrome de Langer-Giedion/diagnóstico
Síndrome de Langer-Giedion/genética
Síndrome de Langer-Giedion/cirurgia
Meia-Idade
Modelos Biológicos
Nariz/anormalidades
Nariz/cirurgia
Fenótipo
Radiografia
Dente Supranumerário/cirurgia
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161006
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37967


  4 / 154 MEDLINE  
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[PMID]:27257806
[Au] Autor:Nomir AG; Takeuchi Y; Fujikawa J; El Sharaby AA; Wakisaka S; Abe M
[Ad] Endereço:Department of Oral Anatomy and Developmental Biology, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan.
[Ti] Título:Fate mapping of Trps1 daughter cells during cardiac development using novel Trps1-Cre mice.
[So] Source:Genesis;54(7):379-88, 2016 07.
[Is] ISSN:1526-968X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tricho-rhino-phalangeal syndrome (TRPS) is a rare congenital disorder that is characterized by abnormal hair growth and skeletal deformities. These result in sparse hair, short stature, and early onset of joint problems. Recent reports have shown that a relatively high proportion of patients with TRPS exhibit a broad range of congenital heart defects. To determine the regulation of Trps1 transcription in vivo, we generated novel transgenic mice, which expressed Cre recombinase under the murine Trps1 proximal promoter sequence (Trps1-Cre). We crossed these mice with Cre reporter mice to identify Trps1 daughter cells. Labeled cells were observed in the appendicular joint tissue, dermal papilla of the hair follicles, cardiac valves, aortic sinus, atrial walls, and the interventricular septum. In situ analysis showed restricted Trps1 expression, which was observed in endocardial cushions of the outflow tract, and in leaflets of all mature cardiac valves. These results suggest that the Trps1 proximal promoter sequence contains some of the tissue-specific Trps1 regulatory region. Further, our findings partially explain why patients with TRPS show a broad range of congenital cardiac defects, although Trps1 expression is observed in a more restricted fashion. genesis 54:379-388, 2016. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Fatores de Transcrição GATA/biossíntese
Síndrome de Langer-Giedion/genética
Organogênese/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Fatores de Transcrição GATA/genética
Regulação da Expressão Gênica
Folículo Piloso/metabolismo
Folículo Piloso/patologia
Seres Humanos
Integrases/biossíntese
Integrases/genética
Síndrome de Langer-Giedion/patologia
Camundongos
Camundongos Transgênicos
Mutação
Regiões Promotoras Genéticas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA Transcription Factors); 0 (Trps1 protein, mouse); EC 2.7.7.- (Cre recombinase); EC 2.7.7.- (Integrases)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170201
[Lr] Data última revisão:
170201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160604
[St] Status:MEDLINE
[do] DOI:10.1002/dvg.22951


  5 / 154 MEDLINE  
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[PMID]:27133561
[Au] Autor:Armour CM; Smith A; Hartley T; Chardon JW; Sawyer S; Schwartzentruber J; Hennekam R; Majewski J; Bulman DE; Suri M; Boycott KM; FORGE Canada Consortium
[Ad] Endereço:Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
[Ti] Título:Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
[So] Source:Am J Med Genet A;170(7):1820-5, 2016 Jul.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Braquidactilia/genética
Proteínas de Ligação a DNA/genética
Disartria/genética
Proteínas de Choque Térmico/genética
Espasticidade Muscular/genética
Proteínas Nucleares/genética
Receptores Citoplasmáticos e Nucleares/genética
Proteínas Repressoras/genética
Paraplegia Espástica Hereditária/genética
Ataxias Espinocerebelares/congênito
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Braquidactilia/diagnóstico
Braquidactilia/fisiopatologia
Criança
Disartria/diagnóstico
Disartria/fisiopatologia
Exoma/genética
Feminino
Dedos/anormalidades
Dedos/fisiopatologia
Doenças do Cabelo/genética
Doenças do Cabelo/fisiopatologia
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Síndrome de Langer-Giedion/genética
Síndrome de Langer-Giedion/fisiopatologia
Masculino
Espasticidade Muscular/diagnóstico
Espasticidade Muscular/fisiopatologia
Nariz/anormalidades
Nariz/fisiopatologia
Paraplegia Espástica Hereditária/diagnóstico
Paraplegia Espástica Hereditária/fisiopatologia
Ataxias Espinocerebelares/diagnóstico
Ataxias Espinocerebelares/genética
Ataxias Espinocerebelares/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Heat-Shock Proteins); 0 (Nuclear Proteins); 0 (Receptors, Cytoplasmic and Nuclear); 0 (Repressor Proteins); 0 (SACS protein, human); 0 (TBL1XR1 protein, human); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160503
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37684


  6 / 154 MEDLINE  
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[PMID]:26540763
[Au] Autor:Marques JS; Maia C; Almeida R; Isidoro L; Dias C
[Ti] Título:Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
[So] Source:Pediatr Endocrinol Rev;13(1):465-7, 2015 Sep.
[Is] ISSN:1565-4753
[Cp] País de publicação:Israel
[La] Idioma:eng
[Ab] Resumo:Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted.
[Mh] Termos MeSH primário: Dedos/anormalidades
Hormônio do Crescimento/deficiência
Doenças do Cabelo/diagnóstico
Síndrome de Langer-Giedion/diagnóstico
Nariz/anormalidades
[Mh] Termos MeSH secundário: Estatura
Criança
Códon sem Sentido
Proteínas de Ligação a DNA/genética
Feminino
Hormônio do Crescimento/uso terapêutico
Doenças do Cabelo/sangue
Doenças do Cabelo/genética
Seres Humanos
Síndrome de Langer-Giedion/sangue
Síndrome de Langer-Giedion/genética
Proteínas Recombinantes/uso terapêutico
Fatores de Transcrição/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (DNA-Binding Proteins); 0 (Recombinant Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors); 9002-72-6 (Growth Hormone)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:151106
[Lr] Data última revisão:
151106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151107
[St] Status:MEDLINE


  7 / 154 MEDLINE  
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[PMID]:26522117
[Au] Autor:Chen CP; Lin MH; Chen YY; Chern SR; Chen YN; Wu PS; Pan CW; Lee MS; Wang W
[Ad] Endereço:Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical Universi
[Ti] Título:Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.
[So] Source:Taiwan J Obstet Gynecol;54(5):592-6, 2015 Oct.
[Is] ISSN:1875-6263
[Cp] País de publicação:China (Republic : 1949- )
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). MATERIALS AND METHODS: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis of amniocentesis revealed an interstitial deletion of chromosome 8q or del(8)(q23.3q24.13). Level II prenatal ultrasound examination revealed craniofacial dysmorphism. The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. Whole-genome array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes was performed. RESULTS: The analysis by aCGH revealed a result of arr 8q23.3q24.11 (116,087,006-118,969,399)×1, 8q24.13 (123,086,851-124,470,847)×1 (NCBI build 37) with a 2.88-Mb deletion of 8q23.3-q24.11 encompassing six OMIM genes, TRPS1, EIF3H, RAD21, SLC30A8, MED30, and EXT1, and a 1.383-Mb deletion of 8q24.13 encompassing four OMIM genes, ZHX2, DERL1, ZHX1, and ATAD2. CONCLUSION: In the present case, the conventional cytogenetic analysis of cultured amniocytes revealed del(8)(q23.3q24.13), whereas aCGH analysis of cultured amniocytes showed the deletions of 8q23.3-q24.11 and 8q24.13 with the presence of the segment 8q24.12. Therefore, aCGH provides the advantage of better understanding of the nature of interstitial deletion and genotype-phenotype correlation in this case.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
Síndrome de Lange/diagnóstico
Haploinsuficiência/genética
Síndrome de Langer-Giedion/diagnóstico
N-Acetilglucosaminiltransferases/genética
Proteínas Nucleares/genética
Fosfoproteínas/genética
Diagnóstico Pré-Natal/métodos
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Amniocentese
Deleção Cromossômica
Cromossomos Humanos Par 8
Hibridização Genômica Comparativa
DNA/análise
Proteínas de Ligação a DNA/metabolismo
Síndrome de Lange/genética
Síndrome de Lange/metabolismo
Diagnóstico Diferencial
Feminino
Seres Humanos
Síndrome de Langer-Giedion/genética
Síndrome de Langer-Giedion/metabolismo
N-Acetilglucosaminiltransferases/metabolismo
Proteínas Nucleares/metabolismo
Fosfoproteínas/metabolismo
Gravidez
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Nuclear Proteins); 0 (Phosphoproteins); 0 (RAD21 protein, human); 0 (TRPS1 protein, human); 0 (Transcription Factors); 9007-49-2 (DNA); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.224 (exostosin-1)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:151102
[Lr] Data última revisão:
151102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151103
[St] Status:MEDLINE


  8 / 154 MEDLINE  
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[PMID]:26113321
[Au] Autor:Miyamae T; Nishimura G; Kishi T; Shimomura Y; Yamanaka H
[Ad] Endereço:Institute of Rheumatology, Tokyo Women's Medical University.
[Ti] Título:Painless lumps in the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type 1.
[So] Source:Pediatr Int;57(3):507-8, 2015 Jun.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Mh] Termos MeSH primário: Articulações dos Dedos/diagnóstico por imagem
Síndrome de Langer-Giedion/diagnóstico
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Feminino
Testes Genéticos
Seres Humanos
Síndrome de Langer-Giedion/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150627
[St] Status:MEDLINE
[do] DOI:10.1111/ped.12642


  9 / 154 MEDLINE  
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[PMID]:25899858
[Au] Autor:Pereza N; Severinski S; Ostojic S; Volk M; Maver A; Dekanic KB; Kapovic M; Peterlin B
[Ad] Endereço:Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
[Ti] Título:Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].
[So] Source:Am J Med Genet A;167(6):1426-7, 2015 Jun.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Deleção Cromossômica
Cromossomos Humanos Par 8
Proteínas de Ligação a DNA/genética
Deleção de Genes
Síndrome de Langer-Giedion/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
[Pt] Tipo de publicação:COMMENT; LETTER
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Transcription Factors)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:150528
[Lr] Data última revisão:
150528
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150423
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36974


  10 / 154 MEDLINE  
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[PMID]:25792522
[Au] Autor:Maas SM; Shaw AC; Bikker H; Lüdecke HJ; van der Tuin K; Badura-Stronka M; Belligni E; Biamino E; Bonati MT; Carvalho DR; Cobben J; de Man SA; Den Hollander NS; Di Donato N; Garavelli L; Grønborg S; Herkert JC; Hoogeboom AJ; Jamsheer A; Latos-Bielenska A; Maat-Kievit A; Magnani C; Marcelis C; Mathijssen IB; Nielsen M; Otten E; Ousager LB; Pilch J; Plomp A; Poke G; Poluha A; Posmyk R; Rieubland C; Silengo M; Simon M; Steichen E; Stumpel C; Szakszon K; Polonkai E; van den Ende J; van der Steen A; van Essen T; van Haeringen A; van Hagen JM; Verheij JB; Mannens MM; Hennekam RC
[Ad] Endereço:Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
[Ti] Título:Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
[So] Source:Eur J Med Genet;58(5):279-92, 2015 May.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Proteínas de Ligação a DNA/genética
Síndrome de Langer-Giedion/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/patologia
Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Estudos de Associação Genética
Seres Humanos
Lactente
Síndrome de Langer-Giedion/patologia
Masculino
Meia-Idade
Mutação de Sentido Incorreto
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:150508
[Lr] Data última revisão:
150508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150321
[St] Status:MEDLINE



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