dc.creator | Savastano, Clarice Pagani | |
dc.creator | El-Jaick, Kênia Balbi | |
dc.creator | Costa-Lima, Marcelo Aguiar | |
dc.creator | Abath, Cristina Maria Batista | |
dc.creator | Cavalcanti, Denise Pontes | |
dc.creator | Félix, Têmis Maria | |
dc.creator | Scarano, Gioacchino | |
dc.creator | Llerena Junior, Juan Clinton | |
dc.creator | Vargas, Fernando Regla | |
dc.creator | Moreira, Miguel Ângelo Martins | |
dc.creator | Seuánez, Hector N. | |
dc.creator | Castilla, Eduardo Enrique | |
dc.creator | Orioli, Iêda Maria | |
dc.date | 2015-03-03T14:00:31Z | |
dc.date | 2015-03-03T14:00:31Z | |
dc.date | 2014 | |
dc.date.accessioned | 2023-09-26T21:11:48Z | |
dc.date.available | 2023-09-26T21:11:48Z | |
dc.identifier | SAVASTANO, 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.identifier | 1415-4757 | |
dc.identifier | https://www.arca.fiocruz.br/handle/icict/9589 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8870666 | |
dc.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 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.format | application/pdf | |
dc.language | eng | |
dc.publisher | Sociedade Brasileira de Genética | |
dc.rights | open access | |
dc.subject | Holoprosencephaly | |
dc.subject | ECLAMC | |
dc.subject | SHH | |
dc.subject | ZIC2 | |
dc.subject | SIX3 | |
dc.subject | Holoprosencefalia | |
dc.title | Molecular analysis of holoprosencephaly in South America | |
dc.type | Article | |