In this report, we describe a new patient with unexplained familial bilateral pheochromocytoma. Following the recent description of TMEM127 as a new pheochromocytoma susceptibility gene, the aim of this study was to test the hypothesis of a causative TMEM127 gene mutation in this patient.
Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Européen Georges Pompidou, Service de Génétique, 20-40 rue Leblanc, F-75015 Paris, France. nelly.burnichon@inserm.fr