Jordan University of Science and Technology

Demonstration of Altered Splicing with the IVS3-1G 3 A Mutation of Cathepsin C


Authors:  


Abstract:  
Papillon-Lefe`vre syndrome is an autosomal recessive palmoplantar keratoderma caused by cathepsin C gene mutations. We present the second family segregating the IVS3-1G 3 A mutation and demonstrate for the first time that altered splicing and decreased enzymatic activity occur. RNA analysis revealed two species in carriers, corresponding to wild-type and mutant transcripts, and only the mutant transcript in affected individuals. Sequencing of the mutant transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon. ? 2002 Elsevier Science (USA) Key Words: cathepsin C; Papillon-Lefe`vre syndrome; palmoplantar keratoderma; alternative splicing; mutation.