Genetic interactions and modifier genes in Hirschsprung's disease
Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associ...
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| Veröffentlicht in: | World journal of gastroenterology : WJG 2011-12, Vol.17 (45), p.4937-4944 |
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| creator | Wallace, Adam S Anderson, Richard B |
| description | Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modifier genes. |
| doi_str_mv | 10.3748/wjg.v17.i45.4937 |
| format | Article |
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| ispartof | World journal of gastroenterology : WJG, 2011-12, Vol.17 (45), p.4937-4944 |
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| source | MEDLINE; Baishideng "World Journal of" online journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Animals Endothelins - metabolism Enteric Nervous System - pathology Enteric Nervous System - physiology Enteric Nervous System - physiopathology Genes, Modifier Hirschsprung Disease - genetics Hirschsprung Disease - physiopathology Humans Mutation Phenotype Proto-Oncogene Proteins c-ret - genetics Signal Transduction - physiology Transcription Factors - genetics Transcription Factors - metabolism |
| title | Genetic interactions and modifier genes in Hirschsprung's disease |
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