High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease

This genetic study of seven southern Chinese families with Hirschsprung's disease identified EDNRB gene mutations in 57% of cases, including one novel variant, with higher incidence than RET mutations. The findings demonstrate 33-50% penetrance for EDNRB variants and support genetic screening for familial HSCR cases.