Spectrum and prevalenceof FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
- Yao L
- Schiavi F
- Cascon A
- Qin Y
- Inglada Pérez L
- King EE
- Toledo RA
- BIONDI, BERNADETTE
- Ercolino T
- Rapizzi E
- Ricketts CJ
- Mori L
- Giacchè M
- Mendola A
- Taschin E
- Boaretto F
- Loli P
- Iacobone M
- Rossi GP
- Lima Junior JV
- Kater CE
- Bex M
- Vikkula M
- Grossman AB
- Gruber SB
- Barontini M
- Persu A
- Castellano M
- Toledo SP
- Maher ER
- Mannelli M
- Opocher G
- Robledo M
- Dahia P.L.
DOIAbstract
We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010.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
Add to ORKG