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MOLECULAR ANALYSIS OF HOLOPROSENCEPHALY IN SOUTH AMERICA
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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.
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