Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia

We identified a gain-of-function variant [c.2063T>G (p.Leu688Trp)] in NNT underlying PDFSH. This genetic variant enhances the antioxidant capacity of NNT, while attenuating intracellularly accumulated ROS levels, and reduces sebaceous glands' susceptibility to ferroptosis.