[The role of ret gene in the pathogenesis of Hirschsprung disease]

Abstract

Hirschsprung disease is a congenital disorder with the incidence of 1 per 5000 live births, characterized by the absence of intestinal ganglion cells. In the etiology of Hirschsprung disease various genes play a role; these are: RET, EDNRB, GDNF, EDN3 and SOX10, NTN3, ECE1, Mutations in these genes may result in dominant, recessive or multifactorial patterns of inheritance. Diverse models of inheritance, co-existence of numerous genetic disorders and detection of numerous chromosomal aberrations together with involvement of various genes confirm the genetic heterogeneity of Hirschsprung disease. Hirschsprung disease might well serve as a model for many complex disorders in which the search for responsible genes has only just been initiated. It seems that the most important role in its genetic etiology plays the RET gene, which is involved in the etiology of at least four diseases. This review focuses on recent advances of the importance of RET gene in the etiology of Hirschsprung disease.