Genetic interactions and modifi er genes in Hirschsprung's disease

作     者：Adam S Wallace Richard B Anderson 

作者机构：Department of Anatomy and Cell Biology University of Melbourne 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2011年第17卷第45期

页      面：4937-4944页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：Supported by The National Health and Medical Research Council of Australia to Anderson RB: Project grant, No. 509219 a CDA Fellowship, No. 454773 

主　　题：Neural crest Enteric nervous system Hirschsprung’s disease Aganglionosis Modif ier genes 

摘      要：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 modif ier genes.