Association of the M1V<i>PRKAR1A</i>Mutation with Primary Pigmented Nodular Adrenocortical Disease in Two Large Families

Abstract

In two large families, the M1V PRKAR1A mutation resulted in a PPNAD-only phenotype with significant variability both in terms of age of onset and clinical severity. Expression studies showed a unique effect of this sequence change. This study has implications for genetic counseling of carriers of this PRKAR1A mutation and patients with CNC and PPNAD and for the study of PRKAR1A-related tumorigenesis.