CDC73-associated (hyperparathyroid-jaw) syndrome is brought about by a mutation – or genetic change – in the CDC73 gene. This gene encodes for the protein parafibromin, which plays a role in the reproduction of genetic material. Now if the CDC73 gene is in an altered form, the protein parafibromin can no longer function properly, resulting in the development of a tumor.
It is not yet known how frequently HPT-JT syndrome occurs. What is known is that the disease can be passed on to children from their parents. In these cases, it is inherited as an autosomal dominant disease.