Succinate dehydrogenase gene variants and their role in Cowden syndrome.

摘要

To the Editor: The TCA Cycle Gene Mutation Database includes the succinate dehydrogenase (SDH) genes and was established to catalog the pathogenic mutations of these genes, which are primarily associated with the tumors paraganglioma (MIM 168000) and pheochromocy-toma (MIM 171300). Recently, the database curators have received expressions of interest in certain SDH mutations from patients with Cowden Syndrome (CD [MIM 158350]) and clinicians involved in the treatment of the syndrome, stimulated by a report from Ni et al.