Spectrum and Prevalence of <i>FP/TMEM127</i> Gene Mutations in Pheochromocytomas and Paragangliomas

Abstract

Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms. Disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein.