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.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Hashiramoto M,Osawa H,Ando M,Murakami A,Nishimiya T,Nakano M,Nishida W,Onuma H,Makino H

doi

10.1507/endocrj.52.499

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

499-504

issue

4

eissn

0918-8959

issn

1348-4540

pii

JST.JSTAGE/endocrj/52.499

journal_volume

52

pub_type

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