Finally, a sense of closure? Animal models of human ventral body wall defects

Abstract

Malformations concerning the ventral body wall constitute one of the leading categories of human birth defects and are present in about one out of every 2000 live births. Although the occurrence of these defects is relatively common, few detailed experimental studies exist on the development and closure of the ventral body wall in mouse and human. This field is further complicated by the array of theories on the pathogenesis of body wall defects and the likelihood that there is no single cause for these abnormalities. In this review, we summarize what is known concerning the mechanisms of normal ventral body wall closure in humans and mice. We then outline the theories that have been proposed concerning human body wall closure abnormalities and examine the growing number of mouse mutations that impact normal ventral body wall closure. Finally, we speculate how studies in animal models such as mouse and Drosophila are beginning to provide a much-needed mechanistic framework with which to identify and characterize the genes and tissues required for this vital aspect of human embryogenesis.