[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).
Second Department of Internal Medicine, Chiba University School of Medicine.
M
M
Taira
N
N
Hashimoto
D000052:Acanthosis Nigricans / Q000209:etiology; D000293:Adolescent; D000328:Adult; D003920:Diabetes Mellitus / Q000209:etiology; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D018149:Glucose Intolerance / Q000209:etiology; D006801:Humans; D006946:Hyperinsulinism / Q000209:etiology; D007333:Insulin Resistance / Q000235:genetics*; D011972:Receptor, Insulin / Q000737:chemistry / Q000235:genetics*
D011972:Receptor, Insulin