Article
A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.
The Journal of clinical endocrinology and metabolism - 1 Aug 2008
Artigas Rocío A, Gonzalez Angel, Riquelme Erick, Carvajal Cristian A, Cattani Andreína, Martínez-Aguayo Alejandro, Kalergis Alexis M, Pérez-Acle Tomas, Fardella Carlos E
Abstract excerpt
CONTEXT: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by unresponsiveness to ACTH. In this study, two mutations of the ACTH receptor (MC2R) gene are reported in this FGD clinical case. OBJECTIVE: The objective of the study was to characterize a novel MC2R gene mutation in a compound heterozygous patient with FGD phenotype. DESIGN: This was a clinical case description,...
Topics
- Adrenal Insufficiency
- Animals
- CHO Cells
- Child, Preschool
- Cricetinae
- Cricetulus
- Glucocorticoids
- Humans
- Male
- Models, Molecular
- Mutation
- Receptor, Melanocortin, Type 2