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, E.e., Toledo, R.a., Biondi, B., Ercolino, T., Rapizzi, E., Ricketts, C.j., Mori, L., Giacchè, M., Mendola, A., Taschin, E., Boaretto, F., Loli, P., Iacobone, M., Rossi, G.p., Lima Junior, J.v., et al.. - 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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