Molecular analysis of holoprosencephaly in South America
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , , , |
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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Genetics and Molecular Biology |
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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 |
format |
article |
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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1752122385858822144 |