Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.
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.
Ogawa
Wataru
W
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
Iwamoto
Kazuya
K
Mori
Hiroyuki
H
Hashiramoto
Mitsuru
M
Miyake
Kazuaki
K
Sakaguchi
Kazuhiko
K
Kasuga
Masato
M
D000293:Adolescent; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D018149:Glucose Intolerance / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D019000:Phosphotyrosine / Q000378:metabolism; D011972:Receptor, Insulin / Q000235:genetics*; D035781:Siblings
D019000:Phosphotyrosine; D001224:Aspartic Acid; D011972:Receptor, Insulin; D005998:Glycine