title: A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient.
abstract: Defects in insulin receptor function have been associated with insulin resistant states such as obesity and type 2 diabetes mellitus. Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of extreme insulin resistance. We have studied a 10-year-old Japanese girl with type A insulin resistance with hirsutism and hyperinsulinemia but without the dysmorphic features characteristic of leprechaunism or Rabson-Mendenhall syndrome. Despite the presence of severe insulin resistance, the patient did not develop overt diabetes mellitus at the time of investigation. Using direct sequencing, we identified a nonsense mutation causing premature termination after amino acid 345 in the alpha subunit of the insulin receptor.
authors.affiliation: Department of Diabetology and Clinical Laboratory Medicine, National University Corporation, Ehime University School of Medicine, Ehime.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Hashiramoto
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Osawa
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Ando
authors.forename: Akiko
authors.initials: A
authors.lastname: Murakami
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Nishimiya
authors.forename: Masao
authors.initials: M
authors.lastname: Nakano
authors.forename: Wataru
authors.initials: W
authors.lastname: Nishida
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Onuma
authors.forename: Hideichi
authors.initials: H
authors.lastname: Makino
mesh_terms: D001120:Arginine / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense; D005260:Female; D018149:Glucose Intolerance / Q000235:genetics*; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics; D007333:Insulin Resistance / Q000235:genetics*; D007564:Japan; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D001120:Arginine; D011972:Receptor, Insulin