Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients

Abstract

Introduction-Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results fi om deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity.