Assoziation funktioneller Haplotypen des RET-Protoonkogen-Promotors mit dem Morbus Hirschsprung

摘要: The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for directional migration enteric nervous system progenitor cells. Loss-of-function germline mutations proto-oncogene are reported in familial and sporadic cases Hirschsprung disease (HSCR) with variable frequency. Furthermore, variants several polymorphisms over- or under-represented HSCR populations. Specifically, c.135A RETvariant has been previously shown as strongly associated phenotype. We have HSCR-phenotype modifying effect RETc. 135G > A polymorphism due to within-gene interaction patients harboring mutations, yet function c.l35G> variant unknown.