%0 Journal Article
%T Genetic interactions and modifier genes in Hirschsprung's disease
%A Adam S Wallace
%A Richard B Anderson
%J World Journal of Gastroenterology
%D 2011
%I Baishideng Publishing Group Co. Limited
%R 10.3748/wjg.v17.i45.4937
%X 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.
%K Neural crest
%K Enteric nervous system
%K Hirschsprung¡¯s disease
%K Aganglionosis
%K Modifier genes
%U http://www.wjgnet.com/1007-9327/full/v17/i45/4937.htm