Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update

摘要

PurposePapillon-Lefèvre syndrome (>PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (>PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide. The purpose of this study was to report a novel cathepsin C mutation in a Brazilian patient.