A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype Abstract #271

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 ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues

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