PRENATAL ANALYSIS OF THE INSULIN-RECEPTOR GENE IN A FAMILY WITH LEPRECHAUNISM

Leprechaunism is an autosomal recessive disease characterized by intra uterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with lep rechaunism. The mutation in their insulin receptor impaired insulin bi nding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was po ssible using mutational analysis of the insulin receptor gene in DNA f rom amniotic cells.