Hirschsprung genes

Hirschsprung disease (HSCR) — also known as congenital intestinal aganglionosis — is a multigenic defect causing neonatal intestinal obstruction, but the identity of the individual genes involved remains unclear. In April 15 online Nature Genetics, Stacey Bolk Gabriel and colleagues from University School of Medicine and University Hospitals of Cleveland, Ohio, show that the common short-segment form of Hirschsprung disease (S-HSCR) result from an interaction between just three loci — two of which have not previously been associated with the disease.

Stacey Bolk Gabriel et al. performed a complete genetic dissection in families with S-HSCR and identified susceptibility loci at 3p21, 10q11 and 19q12 that seem to be necessary, and sufficient, to explain recurrence risk and population incidence (Nat Genet 2002, DOI: 10.1038/ng868).

The authors observed that the "gene at 10q11 is probably RET, supporting its crucial role in all forms of HSCR; however, coding sequence mutations are present in ...