Molecular analysis of holoprosencephaly in South America
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2014 |
| Outros Autores: | , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/9589 |
Resumo: | Universidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil. |
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Savastano, Clarice PaganiEl-Jaick, Kênia BalbiCosta-Lima, Marcelo AguiarAbath, Cristina Maria BatistaCavalcanti, Denise PontesFélix, Têmis MariaScarano, GioacchinoLlerena Junior, Juan ClintonVargas, Fernando ReglaMoreira, Miguel Ângelo MartinsSeuánez, Hector N.Castilla, Eduardo EnriqueOrioli, Iêda Maria2015-03-03T14:00:31Z2015-03-03T14:00:31Z2014SAVASTANO, Clarice Pagani. et al. Molecular analysis of holoprosencephaly in South America. Genet. mol. biol., Ribeirao Preto, v. 31, n. 1, p. 250-262, 2014.1415-4757https://www.arca.fiocruz.br/handle/icict/9589engSociedade Brasileira de GenéticaMolecular analysis of holoprosencephaly in South Americainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Instituto Cândida Vargas. Maternidade Cândida Vargas. João Pessoa, PB, Brasil.Centro di Consulenza Genetica e di Teratologia della Riproduzione. Dipartimento Materno Infantile. ARNAS Garibaldi Nesima. Catania, CT, Italy.Universidade Estadual de Campinas. Departamento de Genética Médica. Campinas, SP, Brasil.Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Registro Campano Difetti Congeniti. Azienda Ospedaliera “Gaetano Rummo”. Benevento, BN, Italy.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. / Fundação Oswaldo Cruz. Estudo Colaborativo Latino Americano de Malformações Congênitas. Laboratório de Epidemiologia de Defeitos Congênitos. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil. / Centro de Educación Médica e Investigación Clínica. Estudio Colaborativo Latino Americano de Malformaciones Congenitas. Buenos Aires, Argentina.Universidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil.Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collabo-rative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lat-eral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female pa-tients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE or microform was approximately 19%. The frequency of microdeletions, detected using Multiplex Ligation-dependant Probe Amplifica-tion (MLPA) was 17% in patients with a normal karyotype. Cytogenetics or QF-PCR analyses revealed chromosomal anomalies in 27% of the probands. Mutational analyses in genesSHH,ZIC2,SIX3andTGIFwere performed in 119 patients, revealing eight mutations inSHH,two mutations inSIX3and two mutations inZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correla-tions and contribute to the development of additional strategies for the analysis of new cases.HoloprosencephalyECLAMCSHHZIC2SIX3Holoprosencefaliainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/9589/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALMolecular analysis of holoprosencephaly in South America.pdfMolecular analysis of holoprosencephaly in South America.pdfapplication/pdf1134600https://www.arca.fiocruz.br/bitstream/icict/9589/2/Molecular%20analysis%20of%20holoprosencephaly%20in%20South%20America.pdfca8b31fc87aa2e99d5a446f2722eba78MD52TEXTMolecular analysis of holoprosencephaly in South America.pdf.txtMolecular analysis of holoprosencephaly in South America.pdf.txtExtracted texttext/plain64068https://www.arca.fiocruz.br/bitstream/icict/9589/3/Molecular%20analysis%20of%20holoprosencephaly%20in%20South%20America.pdf.txt72eb4a6e064cd23c5d791460548b24e7MD53icict/95892018-04-04 08:06:17.886oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-04-04T11:06:17Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
Molecular analysis of holoprosencephaly in South America |
| title |
Molecular analysis of holoprosencephaly in South America |
| spellingShingle |
Molecular analysis of holoprosencephaly in South America Savastano, Clarice Pagani Holoprosencephaly ECLAMC SHH ZIC2 SIX3 Holoprosencefalia |
| title_short |
Molecular analysis of holoprosencephaly in South America |
| title_full |
Molecular analysis of holoprosencephaly in South America |
| title_fullStr |
Molecular analysis of holoprosencephaly in South America |
| title_full_unstemmed |
Molecular analysis of holoprosencephaly in South America |
| title_sort |
Molecular analysis of holoprosencephaly in South America |
| author |
Savastano, Clarice Pagani |
| author_facet |
Savastano, Clarice Pagani El-Jaick, Kênia Balbi Costa-Lima, Marcelo Aguiar Abath, Cristina Maria Batista Cavalcanti, Denise Pontes Félix, Têmis Maria Scarano, Gioacchino Llerena Junior, Juan Clinton Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Seuánez, Hector N. Castilla, Eduardo Enrique Orioli, Iêda Maria |
| author_role |
author |
| author2 |
El-Jaick, Kênia Balbi Costa-Lima, Marcelo Aguiar Abath, Cristina Maria Batista Cavalcanti, Denise Pontes Félix, Têmis Maria Scarano, Gioacchino Llerena Junior, Juan Clinton Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Seuánez, Hector N. Castilla, Eduardo Enrique Orioli, Iêda Maria |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Savastano, Clarice Pagani El-Jaick, Kênia Balbi Costa-Lima, Marcelo Aguiar Abath, Cristina Maria Batista Cavalcanti, Denise Pontes Félix, Têmis Maria Scarano, Gioacchino Llerena Junior, Juan Clinton Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Seuánez, Hector N. Castilla, Eduardo Enrique Orioli, Iêda Maria |
| dc.subject.en.pt_BR.fl_str_mv |
Holoprosencephaly ECLAMC SHH ZIC2 SIX3 |
| topic |
Holoprosencephaly ECLAMC SHH ZIC2 SIX3 Holoprosencefalia |
| dc.subject.decs.pt_BR.fl_str_mv |
Holoprosencefalia |
| description |
Universidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil. |
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2014 |
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2014 |
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2015-03-03T14:00:31Z |
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2015-03-03T14:00:31Z |
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SAVASTANO, Clarice Pagani. et al. Molecular analysis of holoprosencephaly in South America. Genet. mol. biol., Ribeirao Preto, v. 31, n. 1, p. 250-262, 2014. |
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https://www.arca.fiocruz.br/handle/icict/9589 |
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SAVASTANO, Clarice Pagani. et al. Molecular analysis of holoprosencephaly in South America. Genet. mol. biol., Ribeirao Preto, v. 31, n. 1, p. 250-262, 2014. 1415-4757 |
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