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Type: Artigo de periódico
Title: Molecular analysis of holoprosencephaly in South America
Author: 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
Abstract: 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.
Subject: holoprosencephaly
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572014000200011
Date Issue: 1-Jan-2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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