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/10334 |
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 BalbiLima, Marcelo Aguiar CostaAbath, Cristina Maria BatistaBianca, SebastianoCavalcanti, Denise PontesFélix, Têmis MariaScarano, GioacchinoLlerena Junior, Juan ClintonVargas, Fernando ReglaMoreira, Miguel Ângelo MartinsSeuánez, Hector NCastilla, Eduardo EnriqueOrioli, Iêda Maria2015-05-15T13:16:45Z2015-05-15T13:16:45Z2014SAVASTANO, Clarice Pagani et al. Molecular analysis of holoprosencephaly in South America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.250-262, 2014.1415-4757https://www.arca.fiocruz.br/handle/icict/1033410.1590/S1415-47572014000200011engSociedade Brasileira de GenéticaHoloprosencefaliaHoloprosencephalyECLAMCSHHZIC2SIX3HoloprosencefaliaMolecular 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. 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.Azienda Ospedaliera “Gaetano Rummo”. Registro Campano Difetti Congeniti. 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. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Defeitos Congênitos. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, BrasilInstituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, BrasilInstituto 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, ArgentinaUniversidade 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 Collaborative 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 lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. 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 Amplification (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 genes SHH, ZIC2, SIX3 and TGIF were performed in 119 patients, revealing eight mutations in SHH, two mutations in SIX3 and two mutations in ZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correlations and contribute to the development of additional strategies for the analysis of new cases.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1914https://www.arca.fiocruz.br/bitstream/icict/10334/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALfr_vargasetal_IOC-2014.pdfapplication/pdf430277https://www.arca.fiocruz.br/bitstream/icict/10334/2/fr_vargasetal_IOC-2014.pdf2d947361e24df50d918fa97ea1d00588MD52TEXTfr_vargasetal_IOC-2014.pdf.txtfr_vargasetal_IOC-2014.pdf.txtExtracted texttext/plain32993https://www.arca.fiocruz.br/bitstream/icict/10334/3/fr_vargasetal_IOC-2014.pdf.txte2001e9a7598735732645ea23a7c00e8MD53icict/103342022-06-24 13:10:52.789oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352022-06-24T16:10:52Repositório 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 Holoprosencefalia 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 Lima, Marcelo Aguiar Costa Abath, Cristina Maria Batista Bianca, Sebastiano 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 Lima, Marcelo Aguiar Costa Abath, Cristina Maria Batista Bianca, Sebastiano 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 author |
| dc.contributor.author.fl_str_mv |
Savastano, Clarice Pagani El-Jaick, Kênia Balbi Lima, Marcelo Aguiar Costa Abath, Cristina Maria Batista Bianca, Sebastiano 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.other.pt_BR.fl_str_mv |
Holoprosencefalia |
| topic |
Holoprosencefalia Holoprosencephaly ECLAMC SHH ZIC2 SIX3 Holoprosencefalia |
| dc.subject.en.pt_BR.fl_str_mv |
Holoprosencephaly ECLAMC SHH ZIC2 SIX3 |
| dc.subject.es.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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2015-05-15T13:16:45Z |
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2015-05-15T13:16:45Z |
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SAVASTANO, Clarice Pagani et al. Molecular analysis of holoprosencephaly in South America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.250-262, 2014. |
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https://www.arca.fiocruz.br/handle/icict/10334 |
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1415-4757 |
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10.1590/S1415-47572014000200011 |
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SAVASTANO, Clarice Pagani et al. Molecular analysis of holoprosencephaly in South America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.250-262, 2014. 1415-4757 10.1590/S1415-47572014000200011 |
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