HOMOZYGOUS DELETION OF THE HUMAN INSULIN-RECEPTOR GENE RESULTS IN LEPRECHAUNISM

Homozygous inactivation of a gene, as is frequently performed to gener ate mouse models, provides an opportunity to elucidate the role that t he gene plays in normal physiology. However, studies of human disease provide direct insight into the effect of inactivating mutations in ma n. In this investigation, we have identified a one year-old boy from a consanguineous pedigree who is homozygous for deletion of the insulin receptor gene resulting in leprechaunism. Contrary to previous predic tions, the complete deletion of the insulin receptor gene is compatibl e with life.