SETBP1 Schinzel-Giedion syndrome

Molecular characteristics

What causes Schinzel-Giedion syndrome?

As mentioned before, Schinzel-Giedion syndrome is caused by changes in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1. The function of this protein is largely unknown. The mutation in the SETBP1 gene leads to a sort of overproduction of the SETBP1 protein. How this than leads to SGS is still unknown and further research is necessary to learn more about pathophysiologic mechanisms.