title: Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.
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.
authors.affiliation: 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
authors.forename: Wataru
authors.initials: W
authors.lastname: Ogawa
authors.forename: Kazuya
authors.initials: K
authors.lastname: Iwamoto
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Mori
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Hashiramoto
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Miyake
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Sakaguchi
authors.forename: Masato
authors.initials: M
authors.lastname: Kasuga
mesh_terms: 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
chemical_list: D019000:Phosphotyrosine; D001224:Aspartic Acid; D011972:Receptor, Insulin; D005998:Glycine