Molecular analysis of holoprosencephaly in South America

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.

Detalhes bibliográficos
Autores: 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, Héctor N., Castilla, Eduardo Enrique, Orioli, Iêda Maria
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:Brasil
Recursos:Fundação Oswaldo Cruz (FIOCRUZ)
Repositorio:Repositório Institucional da FIOCRUZ (ARCA)
Idioma:inglés
OAI Identifier:oai:arca.fiocruz.br:icict/10334
Acesso em linha:https://arca.fiocruz.br/handle/icict/10334
Access Level:acceso abierto
Palavra-chave:Holoprosencefalia
Holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
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network_acronym_str BR
network_name_str Brasil
repository_id_str
dc.title.none.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
dc.creator.none.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, Héctor N.
Castilla, Eduardo Enrique
Orioli, Iêda Maria
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, Héctor 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, Héctor N.
Castilla, Eduardo Enrique
Orioli, Iêda Maria
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.other.none.fl_str_mv Holoprosencefalia
topic Holoprosencefalia
Holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
Holoprosencefalia
dc.subject.en.none.fl_str_mv Holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
dc.subject.es.none.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.
publishDate 2014
dc.date.issued.fl_str_mv 2014
dc.date.accessioned.fl_str_mv 2015-05-15T13:16:45Z
dc.date.available.fl_str_mv 2015-05-15T13:16:45Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv 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.
dc.identifier.uri.fl_str_mv https://arca.fiocruz.br/handle/icict/10334
dc.identifier.issn.none.fl_str_mv 1415-4757
dc.identifier.doi.none.fl_str_mv 10.1590/S1415-47572014000200011
identifier_str_mv 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
url https://arca.fiocruz.br/handle/icict/10334
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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spelling 2015-05-15T13:16:45Z2015-05-15T13:16:45Z2014SAVASTANO, 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://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:FIOCRUZSavastano, 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, Héctor N.Castilla, Eduardo EnriqueOrioli, Iêda MariaLICENSElicense.txttext/plain1914https://arca.fiocruz.br/bitstreams/4eb02cdb-d28d-424f-9f75-17a4023eb4e9/download7d48279ffeed55da8dfe2f8e81f3b81fMD51falseAnonymousREADORIGINALfr_vargasetal_IOC-2014.pdfapplication/pdf430277https://arca.fiocruz.br/bitstreams/28dff693-77ee-49cd-bd2a-5178107da495/download2d947361e24df50d918fa97ea1d00588MD52trueAnonymousREADTEXTfr_vargasetal_IOC-2014.pdf.txtfr_vargasetal_IOC-2014.pdf.txtExtracted texttext/plain33704https://arca.fiocruz.br/bitstreams/c9ab50df-37f0-4deb-b246-df11ef6f047e/downloadbdf3ee7c35df1421d8fc5fe02b76726cMD513falseAnonymousREADTHUMBNAILfr_vargasetal_IOC-2014.pdf.jpgfr_vargasetal_IOC-2014.pdf.jpgGenerated Thumbnailimage/jpeg47706https://arca.fiocruz.br/bitstreams/50731a6e-9b44-4499-8bda-0b7338f7e00e/download99397ab04415187c0fe04e6b03f2f83cMD514falseAnonymousREADicict/103342025-12-10 12:49:23.026open.accessoai:arca.fiocruz.br:icict/10334https://arca.fiocruz.brRepositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352025-12-10T15:49:23Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)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