<i><scp>CTSC</scp></i> and Papillon–Lefèvre syndrome: detection of recurrent mutations in <scp>H</scp>ungarian patients, a review of published variants and database update

Abstract excerpt

Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of recurrent mutations...

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