Molecular analysis of holoprosencephaly in South America

Detalhes bibliográficos
Autor(a) principal: Savastano,Clarice Pagani
Data de Publicação: 2014
Outros Autores: El-Jaick,Kênia Balbi, Costa-Lima,Marcelo Aguiar, Abath,Cristina Maria Batista, Bianca,Sebastiano, Cavalcanti,Denise Pontes, Félix,Têmis Maria, Scarano,Gioacchino, Llerena Jr,Juan Clinton, Vargas,Fernando Regla, Moreira,Miguel Ângelo Martins, Seuánez,Hector N., Castilla,Eduardo Enrique, Orioli,Iêda Maria
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011
Resumo: 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.
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spelling Molecular analysis of holoprosencephaly in South AmericaholoprosencephalyECLAMCSHHZIC2SIX3Holoprosencephaly (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.Sociedade Brasileira de Genética2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011Genetics and Molecular Biology v.37 n.1 suppl.1 2014reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572014000200011info:eu-repo/semantics/openAccessSavastano,Clarice PaganiEl-Jaick,Kênia BalbiCosta-Lima,Marcelo AguiarAbath,Cristina Maria BatistaBianca,SebastianoCavalcanti,Denise PontesFélix,Têmis MariaScarano,GioacchinoLlerena Jr,Juan ClintonVargas,Fernando ReglaMoreira,Miguel Ângelo MartinsSeuánez,Hector N.Castilla,Eduardo EnriqueOrioli,Iêda Mariaeng2014-05-21T00:00:00Zoai:scielo:S1415-47572014000200011Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2014-05-21T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
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
holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
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
Bianca,Sebastiano
Cavalcanti,Denise Pontes
Félix,Têmis Maria
Scarano,Gioacchino
Llerena Jr,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
Bianca,Sebastiano
Cavalcanti,Denise Pontes
Félix,Têmis Maria
Scarano,Gioacchino
Llerena Jr,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
Costa-Lima,Marcelo Aguiar
Abath,Cristina Maria Batista
Bianca,Sebastiano
Cavalcanti,Denise Pontes
Félix,Têmis Maria
Scarano,Gioacchino
Llerena Jr,Juan Clinton
Vargas,Fernando Regla
Moreira,Miguel Ângelo Martins
Seuánez,Hector N.
Castilla,Eduardo Enrique
Orioli,Iêda Maria
dc.subject.por.fl_str_mv holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
topic holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572014000200011
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
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 Genetics and Molecular Biology v.37 n.1 suppl.1 2014
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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