What are novel mutations that cause hereditary pheochromocytoma?

Updated: Jul 20, 2020
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
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Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. Loss of MAX function is correlated with metastatic potential. [13]  Burnichon et al concluded that germline mutations in MAX are responsible for approximately 1% of pheochromocytomas and paragangliomas in patients without evidence of other known mutations. [14]

A number of other genes, such as the GDNF gene, are associated with development of adrenal or extra-adrenal pheochromocytomas. The GDNF gene is also associated with central hypoventilation syndrome and susceptibility to Hirschsprung disease.

The TMEM127 gene also is associated with susceptibility to pheochromocytoma. Several families have been described with unique mutations to this gene that have resulted in the development of pheochromocytoma between young adulthood and middle age. All of these are inherited in an autosomal dominant fashion with incomplete penetrance.

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