Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis

Key Points

• Novel mutations in the mevalonate pathway genes were identified in patients with porokeratosis, expanding genetic knowledge.
• This study reports the discovery of two MVD and one FDPS mutations that may underpin porokeratosis pathology.
• Assessment of genetic variations focused on individuals diagnosed with porokeratosis, revealing significant findings.
• The findings may enable improved understanding of underlying genetic mechanisms, paving the way for future research.

Abstract