Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families | Synapse
March 3, 2026Open Access
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
Key Points
Familial glucocorticoid deficiency was linked to recurrent NNT mutations across several families in Saudi Arabia.
Novel mutations in the nicotinamide nucleotide transhydrogenase gene were identified, shedding light on genetic factors.
The analysis involved genetic sequencing of families affected by glucocorticoid deficiency to pinpoint mutations.
Significant findings may facilitate genetic screening and targeted therapies for affected families.