A new familial syndrome with impaired function of three related peptide growth factors

Hum Genet. 1989 Oct;83(3):209-16. doi: 10.1007/BF00285157.


We describe a new familial syndrome in three siblings; it is biochemically characterized by a combined defect of the action of the three related peptides insulin, insulin-like growth factor I (IGF I) and epidermal growth factor (EGF). Clinically, the disease has features of Werner syndrome with lipodystrophy, scleroderma-like alterations of the skin, alterations of the skeleton and contractures of joints. In addition, one of the patients has an insulin-resistant diabetes mellitus. Studies with cultured fibroblasts obtained from skin biopsies show a markedly reduced stimulation of RNA synthesis by the three growth factors and a decreased insulin stimulation of 2-deoxy-D-glucose uptake as compared with normal controls. Receptor binding of the three peptides occurred with normal capacity and affinity. We conclude that the signal transfer of different growth factors has a common denominator at the postreceptor level.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Epidermal Growth Factor / genetics*
  • Epidermal Growth Factor / metabolism
  • ErbB Receptors / metabolism
  • Fibroblasts / metabolism
  • Glucose / metabolism
  • Humans
  • Insulin / genetics*
  • Insulin / metabolism
  • Insulin-Like Growth Factor I / genetics*
  • Insulin-Like Growth Factor I / metabolism
  • Male
  • Phenotype
  • RNA / biosynthesis
  • Receptor, Insulin / metabolism
  • Receptors, Cell Surface / metabolism
  • Receptors, Somatomedin
  • Somatomedins / genetics*
  • Werner Syndrome / genetics*
  • Werner Syndrome / metabolism


  • Insulin
  • Receptors, Cell Surface
  • Receptors, Somatomedin
  • Somatomedins
  • Epidermal Growth Factor
  • RNA
  • Insulin-Like Growth Factor I
  • ErbB Receptors
  • Receptor, Insulin
  • Glucose