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.