[Genes, cognition, and language: some notes regarding velocardiofacial syndrome].

INTRODUCTION: Identification of different syndromes caused by chromosomic microdeletions and their exhaustive characterization in molecular and clinical terms is decisively contributing to elucidate real connections between genes and cognition.

DEVELOPMENT: The velocardiofacial syndrome is a disorder caused by a hemizygous deletion of chromosome 22q11.2, which encompasses about 40 genes. Although the hemizygosis of that region gives rise to different structural and functional alterations in difference zones of the body, those having the greatest relevance are those observed in the central nervous system, since they give rise to a complex clinical picture. This clinical picture includes, among its characteristic symptoms, different psychiatric disorders, cognitive impairments, and a delay in language acquisition.

CONCLUSIONS: Cloning and molecular characterization of genes circumscribed to the deleted region in this syndrome and the generation of animal models of it have greatly helped to obtain a better understanding of the clinical phenotype, as well as the actual role performed by genes in the emergence of operation capacity of the different human cognitive capacities. Far from there being a direct cause, the effect that the genetic factors have on cognitive functions are always conditioned by the molecular and the ontogenetic background and also by the environment the body lives in.