Genetique de la maladie de Hirschsprung

Translated title of the contribution: Genetics of Hirschsprung's disease

T. Attie, J. Amiel, D. Jan, P. Edery, A. Pelet, R. Salomon, A. Munnich, S. Lyonnet, C. Nihoul-Fekete

Research output: Contribution to journalShort surveypeer-review

2 Scopus citations


Hirschsprung's disease (HD) is one of the commonest gastrointestinal malformations, as it affects one child out of 5.000 births. It classically induces severe neonatal intestinal obstruction requiring surgical treatment which currently ensures a favourable prognosis for most of the affected children. Although the great majority of cases are sporadic, the existence of familial forms (10% of cases) has allowed localization and then identificalion of an autosomal dominant gene on chromosome 10, the RET proto-oncogene, responsible for 50% of familial forms and 15% of sporadic cases. A second gene has been recently localized on chromosome 13, the endothelin beta receptor (EDNRB) gene. Two homozygous mutations of the EDNRB gene have heen identified in two consanguineous families, in which HD is associated with Waardenburg's syndrome (WS). Other heterozygous mutations have been identified in patients presenting with isolated HD and 5% of cases of HD can be considered to present mutations of this gene. Finally, the authors have recently identified a mutation of the endothelin gene 3 (EDN3), one of the EDNRB ligands in a patient presenting with a combination of HD and WS. This mutation, present at the homozygous state in this patient, is predictive of complete absence of EDN3 protein: this is therefore the third known gene responsible for HD.

Translated title of the contributionGenetics of Hirschsprung's disease
Original languageFrench
Pages (from-to)538-541
Number of pages4
JournalAnnales de Chirurgie
Issue number7
StatePublished - 1996
Externally publishedYes


  • EDNB
  • Hirschsprung disease
  • RET
  • genetics
  • malformation

ASJC Scopus subject areas

  • Surgery


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