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.