Summary
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 capcity and affinity. We conclude that the signal transfer of different growth factors has a common denominator at the postreceptor level.
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Hoepffner, H.J., Dreyer, M., Reimers, U. et al. A new familial syndrome with impaired function of three related peptide growth factors. Hum Genet 83, 209–216 (1989). https://doi.org/10.1007/BF00285157
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DOI: https://doi.org/10.1007/BF00285157