Genotype-phenotype features of germline variants of the TMEM127 pheochromocytoma susceptibility gene: A 10-year update

ARMAIZ-PENA, GUSTAVO; FLORES, SHAHIDA K; CHENG, ZI-MING; ZHANG, XHINGYU; ESQUIVEL, EMMANUEL; POULLARD, NATALIE; VAIDYANATHAN, ANUSHA; LIU, QIANQIAN; MICHALEK, JOEL; SANTILLAN-GOMEZ, ALFREDO A; LISS, MICHAEL; AHMADI, SARA; KATSELNIK, DANIEL; MALDONADO, ENRIQUE; SALGADO, SARIMAR AGOSTO; JIMENEZ, CAMILO; FISHBEIN, LAUREN; HAMIDI, OKSANA; ELSE, TOBIAS; LECHAN, RON; TISCHLER, ART S; BENN, DIANA E; DWIGHT, TRISHA; CLIFTON-BLIGH, RORY; SANSO, GABRIELA; BARONTINI, MARTA; VINCENT, DEEPA; ARONIN, NEIL; BIONDI, BERNADETTE; KOOPS, MAUREEN; BOWHAY-CARNES, ELIZABETH; GIMENEZ-ROQUEPLO, ANNE-PAULE; ALVAREZ-ESLAVA, ANDREA; BRUDER, JAN M; KITANO, MIO; BURNICHON, NELLY; DING, YANLI; DAHIA, PATRICIA L. M

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

ENDOCRINE SOC

Año: 2021 vol. 106 p. 350 - 364

0021-972X

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