-
World J. Gastroenterol. · Dec 2011
Editorial ReviewGenetic interactions and modifier genes in Hirschsprung's disease.
- Adam S Wallace and Richard B Anderson.
- World J. Gastroenterol. 2011 Dec 7; 17 (45): 4937-44.
AbstractHirschsprung'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.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..