Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.

ABSTRACT:

Purpose

This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (PGL).

Design

Data were collected from a registry of probands with TMEM127 variants, published reports, and public databases.

Main outcome analysis

Clinical, genetic, and functional associations were determined.

Results

The cohort comprised 110 index patients (111 variants) with a mean age of 45 years (range, 21-84 years). Females were predominant (76 vs 34, P < .001). Most patients had PHEO (n = 94; 85.5%), although PGL (n = 10; 9%) and renal cell carcinoma (RCC, n = 6; 5.4%) were also detected, either alone or in co

SUBMITTER: Armaiz-Pena G 

PROVIDER: S-EPMC7765648 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature