Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.

To the Editor : Hirschsprung disease (HSCR, MIM 142623) or aganglionic megacolon is the most frequent genetic cause of congenital intestinal obstruction. The tyrosine kinase receptor gene RET is the major gene implicated in isolated non-syndromic HSCR, with both rare coding sequence mutations and/or a frequent variant located in an enhancer element… CONTINUE READING