Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene

Wataru Ogawa; Kazuya Iwamoto; Hiroyuki Mori; Mitsuru Hashiramoto; Kazuaki Miyake; Kazuhiko Sakaguchi; Masato Kasuga

doi:10.1016/j.diabres.2008.12.002

Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene

Diabetes Res Clin Pract. 2009 Mar;83(3):e75-7. doi: 10.1016/j.diabres.2008.12.002. Epub 2009 Jan 9.

Authors

Wataru Ogawa¹, Kazuya Iwamoto, Hiroyuki Mori, Mitsuru Hashiramoto, Kazuaki Miyake, Kazuhiko Sakaguchi, Masato Kasuga

Affiliation

¹ Department of Internal Medicine, Division of Diabetes, Metabolism, and Endocrinology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan. ogawa@med.kobe-u.ac.jp

PMID: 19135752
DOI: 10.1016/j.diabres.2008.12.002

Abstract

We describe two sisters with type A insulin resistance. In contrast to common situation for this genetic disorder, the sisters harbored compound heterozygous mutations in the insulin receptor gene associated with mild glucose intolerance. The cases highlight the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.

Publication types

Case Reports

MeSH terms

Adolescent
Amino Acid Substitution
Aspartic Acid / genetics
Female
Genetic Carrier Screening
Genetic Variation
Glucose Intolerance / genetics*
Glycine / genetics
Heterozygote
Humans
Insulin Resistance / genetics*
Mutation*
Phenotype
Phosphotyrosine / metabolism
Receptor, Insulin / genetics*
Siblings

Substances

Phosphotyrosine
Aspartic Acid
Receptor, Insulin
Glycine