Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Abstract

We describe a new corneal intraepithelial dyskeratosis and how we identified its causative gene. The NLRP1 gene product is implicated in inflammation, autoimmune disorders, and caspase mediated apoptosis. NLRP1 polymorphisms are associated with various diseases.