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.
2010
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]
File in questo prodotto:
File Dimensione Formato  
2611.full.pdf

accesso aperto

Tipologia: Abstract
Licenza: Dominio pubblico
Dimensione 356.43 kB
Formato Adobe PDF
356.43 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/378014
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 167
  • ???jsp.display-item.citation.isi??? 139
social impact