A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient.
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.
Hashiramoto
Mitsuru
M
Department of Diabetology and Clinical Laboratory Medicine, National University Corporation, Ehime University School of Medicine, Ehime.
Osawa
Haruhiko
H
Ando
Mitsuhiro
M
Murakami
Akiko
A
Nishimiya
Tatsuya
T
Nakano
Masao
M
Nishida
Wataru
W
Onuma
Hiroshi
H
Makino
Hideichi
H
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*
D018389:Codon, Nonsense; D001120:Arginine; D011972:Receptor, Insulin