Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation.

Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome rearrangements, gene mutations and environmental factors. A group of genes including IRF6, FOXE1, GLI2, MSX2, SKI, SATB2, MSX1 and FGF has been implicated in the etiology of OFCs. Recently, the role of the copy number variations (CNVs) has been studied in genetic defects and diseases. CNVs act by modifying gene expression, disrupting gene sequence or altering gene dosage. The aims of this study were to screen the above-mentioned genes and to investigate CNVs in patients with OFCs. The sample was composed of 23 unrelated individuals who were grouped according to phenotype (associated with other anomalies or isolated) and familial recurrence. New sequence variants in GLI2, MSX1 and FGF8 were detected in patients, but not in their parents, as well as in 200 control chromosomes, indicating that these were rare variants. CNV screening identified new genes that can influence OFC pathogenesis, particularly highlighting TCEB3 and KIF7, that could be further analyzed. The findings of the present study suggest that the mechanism underlying CNV associated with sequence variants may play a role in the etiology of OFC.

História, filosofia e sociologia da educação matemática na formação do professor: um programa de pesquisa

We present and discuss in this article some features of a research program whose central object of investigation is the way in which the recent fields of history, philosophy, and sociology of mathematical education could take part in a critical and qualified manner in the initial and continuing training of teachers in this area. For that, we endorse the viewpoint that the courses for mathematics teacher education should be based on a conception of specificity through which a new pedagogical project could be established. In such project those new fields of investigation would participate, in an organic and clarifying way, in the constitution of multidimensional problematizations of school practices, in which mathematics would be involved, and that would be guided by academic investigations about the issues that currently challenge teachers in the critical work of incorporation, resignification, production, and transmission of mathematical culture in the context of the school institution.