[Insulin receptor abnormality and its clinical aspect].

About 50 cases of insulin receptor abnormality were reported after in 1985 when human insulin receptor cDNA was cloned. The abnormalities were found in syndrome of type A insulin resistance, Leprechaunism, and syndrome of Rabson-Mendenhall. We have reported 3 families with insulin receptor gene abnormality, Type C (Chiba), Type A (Yamanashi) and Type C (Hokkaidou-2). Type C (Chiba) and Type A (Yamanashi) have a deletion of from 17 to 22 exon and 14 exon of insulin receptor gene, respectively. Type C(Hokkaidou-2) shows a substitution of valine for glycine at codon 1008 in the tyrosine kinase domain. They all showed the typical symptoms of type A insulin resistance, and the insulin resistance was dominantly inherited in the family of Type C(Chiba) and Type C(Hokkaidou-2), and not in the family of Type A(Yamanashi).