Pediatric Surgery International

, Volume 25, Issue 7, pp 543–558

Genetic basis of Hirschsprung’s disease

Review Article

DOI: 10.1007/s00383-009-2402-2

Cite this article as:
Tam, P.K.H. & Garcia-Barceló, M. Pediatr Surg Int (2009) 25: 543. doi:10.1007/s00383-009-2402-2

Abstract

Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in light of the molecular and cellular events that take place during the ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process, and represent a primary etiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.

Keywords

Hirschsprung’s RET Genetics 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Division of Paediatric Surgery, Department of SurgeryQueen Mary Hospital, The University of Hong KongHong KongPeople’s Republic of China
  2. 2.Department of Surgery, Li Ka Shing Faculty of MedicineThe University of Hong KongHong KongPeople’s Republic of China