CTSC and Papillon-Lefevre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

ABSTRACT: 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 identified in Hungarian patients and a review of published mutations is presented in this update. Comparison of clinical features in affected families with the same mutation strongly confirm that identical mutations of the CTSC gene can give rise to multiple different phenotypes, making genotype-phenotype correlations difficult. Variable expression of the phenotype associated with

SUBMITTER: Nagy N 

PROVIDER: S-EPMC4049362 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature