Resumo

ESCOBAR, Lina María; PRADA-ARISMENDY, Jeanette; TELLEZ, Carolina  e  CASTELLANOS, Jaime. Genetic basis of orofacial cleft formation in humans. CES odontol. [online]. 2013, vol.26, n.1, pp.57-67. ISSN 0120-971X.

Clefts of the lip and palate (CL/P) are a craneofacial alteration of high frequency in the world-wide population, whose etiology is multifactorial, involving genetic factors as much as environmental ones. Most of this type of pathologies (70%) appear as non-syndromic form, although the presence of additional facial alterations is associated with clefts of syndromic type. The development of molecular tools has permitted to identify some of the genes that are involved in non-syndromic CL/P, such as proto-oncogen Bcl3, gene Tgfb, homeotic gene Msx1 and Bmp among others, which have demonstrated a relationships between them using both linkage analysis and knock-out mice. In the other hand, they have been identified more of 300 different syndromes associated with CL/P, being one from most frequent the van der Woude syndrome which also have identified mutations in genes such as IRF6. Because CL / P is a highly complex etiology pathology where genetic alterations play an important role and where every day is more knowledge on alterations in several genes that contribute to the formation of the alteration, the aim of this article is review the current knowledge on the reported genetics of the CL/P and genes that would contribute to the development of this complex pathology.

Palavras-chave : Left lip/palate; Bone Morphogenetic Protein 2; Maxillofacial Development.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )