Clinical and genetic analysis of the insulin receptor gene in a Chinese patient with extreme insulin resistance

Diabetes Res Clin Pract. 2010 Sep;89(3):e56-8. doi: 10.1016/j.diabres.2010.06.002. Epub 2010 Jun 29.

Abstract

Several types of mutations in insulin receptor gene have been identified in patients with type A insulin resistance. A 21-year old girl was diagnosed with diabetic retinopathy and cataract after 6 years of uncontrolled diabetes. Three nucleotide substitution mutations were detected, which may be associated with the patient's extreme insulin resistance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People
  • Cataract / etiology
  • Cataract / genetics
  • Diabetes Complications / genetics
  • Diabetic Retinopathy / etiology
  • Diabetic Retinopathy / genetics
  • Female
  • Humans
  • Insulin Resistance / genetics*
  • Insulin Resistance / physiology
  • Mutation
  • Receptor, Insulin / genetics*
  • Young Adult

Substances

  • Receptor, Insulin