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[Genetics of Hirschsprung disease]
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales
|January 1, 1996
Summary
Hirschsprung disease (HD), a common neonatal intestinal obstruction, is linked to genetic mutations. The RET proto-oncogene, EDNRB, and EDN3 genes are identified as key genetic factors in HD development.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Hirschsprung disease (HD) is a frequent congenital gastrointestinal malformation affecting 1 in 5,000 births.
- It causes severe neonatal intestinal obstruction, typically requiring surgical intervention with a generally favorable prognosis.
Purpose of the Study:
- To identify the genetic underpinnings of Hirschsprung disease.
- To explore the roles of specific genes in the etiology of HD and associated syndromes.
Main Methods:
- Genetic linkage analysis to localize disease genes.
- Gene sequencing to identify mutations in candidate genes.
- Analysis of genotype-phenotype correlations in affected individuals.
Main Results:
- The RET proto-oncogene on chromosome 10 is implicated in 50% of familial and 15% of sporadic HD cases.
- Mutations in the endothelin beta receptor (EDNRB) gene on chromosome 13 are found in some HD cases, including those associated with Waardenburg syndrome (WS).
- A mutation in the endothelin 3 (EDN3) gene, an EDNRB ligand, was identified in a patient with HD and WS, representing the third known gene associated with HD.
Conclusions:
- Genetic factors play a significant role in the pathogenesis of Hirschsprung disease.
- The RET, EDNRB, and EDN3 genes are key contributors to HD, with mutations leading to diverse clinical presentations.
- Further research into these genetic pathways can improve understanding and potentially therapeutic strategies for HD.