The Progress of Molecular Genetic Study on the Correlation between RET Proto-oncogene and Hirschsprung Disease

Abstract: Hirschsprung disease (HSCR) is a common congenital malformation， which also named congenital aganglionsis. Until now mutations in 11 genes and allele sharing with 5 loci have been identified as risk factors in HSCR. Of the above genes， RET proto-oncogene (RET) was proved to be the major genetic risk factor. In the common simplex cases， however， no more than 15% of patients possess RET coding mutations， but most patients do show haplotype sharing at the RET locus. Recently， it was indicated that the possible presence of the mutations in the RET untranslated regions or in its regulatory sequences may play an important role in HSCR. This review focused on progress on the correlation between RET and HSCR.

CSTR: 32200.14.cjcb.2008.01.0004