"Genetics "
"Hyperparathyroidism-jaw tumour syndrome is usually caused by mutations in the CDC73 (HRPT2) gene 2,6. This gene is responsible for the creation of parafibromin 6, which is a protein responsible for various gene transcriptions throughout the body as well as regulating cell growth and proliferation. Mutations often cause a parafibromin protein that is too short and non-functional 1. This anomaly is inherited in an autosomal dominant pattern 3,6."
Expected headings
"Associations"
"Genetics "
"Approximately 200 cases have been reported in the medical literature ref. There is no gender predilection, and most patients are diagnosed in their third or fourth decades 6."
"There are two key components to hyperparathyroidism-jaw tumour syndrome:"
"a single parathyroid adenoma or carcinoma is more common (~70%; range 60-80%) than multigland disease 2,6"