A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype

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Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.

Aim(s): To seek germline TMEM127 mutations in archival DNA of 5 PHEO patients without mutations in other susceptibility genes.

Materials and methods: The coding regions and the exon-intron junctions of the four exons of TMEM127 gene were amplified by PCR and directly sequenced.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Vilar H, Lopes L, Jácome de Castro J, Martins Bugalho M,

Keywords: pheochromocytoma, familial forms, germline mutations, susceptibility genes, TMEM127,