dc.creatorSavastano, Clarice Pagani
dc.creatorEl-Jaick, Kênia Balbi
dc.creatorCosta-Lima, Marcelo Aguiar
dc.creatorAbath, Cristina Maria Batista
dc.creatorCavalcanti, Denise Pontes
dc.creatorFélix, Têmis Maria
dc.creatorScarano, Gioacchino
dc.creatorLlerena Junior, Juan Clinton
dc.creatorVargas, Fernando Regla
dc.creatorMoreira, Miguel Ângelo Martins
dc.creatorSeuánez, Hector N.
dc.creatorCastilla, Eduardo Enrique
dc.creatorOrioli, Iêda Maria
dc.date2015-03-03T14:00:31Z
dc.date2015-03-03T14:00:31Z
dc.date2014
dc.date.accessioned2023-09-26T21:11:48Z
dc.date.available2023-09-26T21:11:48Z
dc.identifierSAVASTANO, Clarice Pagani. et al. Molecular analysis of holoprosencephaly in South America. Genet. mol. biol., Ribeirao Preto, v. 31, n. 1, p. 250-262, 2014.
dc.identifier1415-4757
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/9589
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8870666
dc.descriptionHoloprosencephaly (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.
dc.formatapplication/pdf
dc.languageeng
dc.publisherSociedade Brasileira de Genética
dc.rightsopen access
dc.subjectHoloprosencephaly
dc.subjectECLAMC
dc.subjectSHH
dc.subjectZIC2
dc.subjectSIX3
dc.subjectHoloprosencefalia
dc.titleMolecular analysis of holoprosencephaly in South America
dc.typeArticle


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