Monogenic diabetes mellitus associated with a mutation in the insulin gene (INS)

Abstract

Defects in the insulin gene (INS) are one of the causes responsible for the development of permanent and sometimes transient diabetes mellitus (DM) in the children during the first year of life. Both autosomal dominant and autosomal recessive mutations in the INS gene have been described. Dominant mutations are responsible for the development of absolute insulin deficiency due to precocious apoptosis of pancreatic beta-cells and the formation of the symptomocomplex clinically identical with type 1 diabetes mellitus. Recessive mutations affect insulin biosynthesis and cause DM manifestations within a few first weeks of life of the child. The first case of DM manifestation in a 7-month old girl in Russia is described; it is attributable to a new heterozygous mutation in the insulin gene.