Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.
BACKGROUND
Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of insulin resistance.


METHODS
We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome. The proband's mother had hyperinsulinemia and diabetes mellitus but did not show any common clinical features of type A insulin resistance. The proband's brother also had hyperinsulinemia but manifested neither glucose intolerance nor common clinical features of type A insulin resistance. A novel heterozygous mutation, p.Asn1164Thr, of the insulin receptor gene (INSR) was identified in this family.


CONCLUSIONS
These cases illustrate the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.
Angela
A
Domínguez-García
Rosa
R
Martínez
Inés
I
Urrutia
Intza
I
Garin
Luis
L
Castaño
D000293:Adolescent; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D056731:Donohue Syndrome / Q000150:complications; D005260:Female; D005951:Glucose Tolerance Test; D006579:Heterozygote; D006728:Hormones / Q000097:blood; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011972:Receptor, Insulin / Q000235:genetics*
D006728:Hormones; D011972:Receptor, Insulin