Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefevre syndrome.

ABSTRACT:

Background

PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the amino-terminus of protein substrates and mainly plays an immune and inflammatory role. Several mutations have been reported in this gene in patients from several ethnic groups. We report here mutation analysis of the CTSC gene in three Indian families with PLS.

Methods

Peripheral blood samples were obtained from individuals belonging to three Indian families with PLS for genomic DNA isolation. Exon-specific intronic primers were used to amplify DNA samples from individuals. PCR products were subsequently sequenced

SUBMITTER: Selvaraju V 

PROVIDER: S-EPMC183830 | biostudies-literature | 2003 Jul

REPOSITORIES: biostudies-literature