title: CTSC and Papillon-Lefèvre 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 the same CTSC mutation may reflect the influence of other genetic and/or environmental factors. Most mutations are missense (53%), nonsense (23%), or frameshift (17%); however, in-frame deletions, one splicing variant, and one 5' untranslated region (UTR) mutation have also been reported. The majority of the mutations are located in exons 5-7, which encodes the heavy chain of the cathepsin C protein, suggesting that tetramerization is important for cathepsin C enzymatic activity. All the data reviewed here have been submitted to the CTSC base, a mutation registry for PLS at http://bioinf.uta.fi/CTSCbase/.
authors.affiliation: Department of Medical Genetics, University of Szeged Szeged, Hungary ; Department of Dermatology and Allergology, University of Szeged Szeged, Hungary ; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged Szeged, Hungary.
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.affiliation: Department of Periodontology, University of Szeged Szeged, Hungary.
authors.forename: Péter
authors.initials: P
authors.lastname: Vályi
authors.affiliation: Department of Dermatology and Allergology, University of Szeged Szeged, Hungary.
authors.forename: Zsanett
authors.initials: Z
authors.lastname: Csoma
authors.affiliation: Department of Medical Genetics, University of Szeged Szeged, Hungary.
authors.forename: Adrienn
authors.initials: A
authors.lastname: Sulák
authors.affiliation: Department of Medical Genetics, University of Szeged Szeged, Hungary.
authors.forename: Kornélia
authors.initials: K
authors.lastname: Tripolszki
authors.affiliation: Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged Szeged, Hungary.
authors.forename: Katalin
authors.initials: K
authors.lastname: Farkas
authors.affiliation: Department of Dermatology and Allergology, University of Szeged Szeged, Hungary.
authors.forename: Ekaterine
authors.initials: E
authors.lastname: Paschali
authors.affiliation: Department of Pediatrics, University of Szeged Szeged, Hungary.
authors.forename: Ferenc
authors.initials: F
authors.lastname: Papp
authors.affiliation: Department of Medical Genetics, University of Szeged Szeged, Hungary.
authors.forename: Lola
authors.initials: L
authors.lastname: Tóth
authors.affiliation: Mór Kaposi Teaching Hospital Kaposvár, Hungary.
authors.forename: Beáta
authors.initials: B
authors.lastname: Fábos
authors.affiliation: Department of Dermatology and Allergology, University of Szeged Szeged, Hungary ; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged Szeged, Hungary.
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemény
authors.affiliation: Department of Periodontology, University of Szeged Szeged, Hungary.
authors.forename: Katalin
authors.initials: K
authors.lastname: Nagy
authors.affiliation: Department of Medical Genetics, University of Szeged Szeged, Hungary ; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged Szeged, Hungary.
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
keywords: Aggressive periodontitis; CTSC gene; Haim–Munk syndrome; Papillon–Lefèvre syndrome