Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1

1 proband (27-year-old male athlete with hypertension, low plasma renin activity, and low serum aldosterone), available family members, and 51 unrelated hypertensive subjects with low plasma renin and aldosterone levels. In vitro studies using COS-1 cells.

Genetic sequencing of the NR3C1 gene and in vitro functional studies

Identification of causative NR3C1 mutation and its functional consequencessurrogate