Searchable abstracts of presentations at key conferences in endocrinology

ea0037oc1.2 | Adrenal 1 | ECE2015

Functional study of ARMC5 (armadillo repeat containing 5), a new tumour suppressor gene involved in primary bilateral macronodular adrenal hyperplasia

Drougat ludivine , Espiard Stephanie , Doly Stephane , Rodriguez Stephanie , Rizk-Rabin Marthe , Libe Rossella , Assie Guillaume , Marullo Stefano , Ragazzon Bruno , Bertherat Jerome

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are adrenocortical tumors leading to adrenal Cushing’s syndrome. Recently, our laboratory has identified the first gene predisposing frequently to PBMAH in adults, named ARMC5 (Armadillo Repeat Containing 5)1. The ARMC5-inactivating mutations identified in leucocyte and tumour DNA in PBMAH patients suggest that ARMC5 is a tumour suppressor gene. However, the mechanisms of action of ARMC5 remain unkno...