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.
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.. - In: JAMA. - ISSN 0098-7484. - ELETTRONICO. - 304:23(2010), pp. 2611-2619. [10.1001/jama.2010.1830]
Spectrum and prevalenceof FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
BIONDI, BERNADETTE;
2010
Abstract
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.File | Dimensione | Formato | |
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