Ctsc and papillon–lefevre syndrome: Detection of recurrent mutations in hungarian patients, a review of published variants and database update

N. Nagy, Peter Valyi, Zsanett Csoma, Adrienn Sulak, Kornelia Tripolszki, Katalin Farkas, Ekaterine Paschali, Ferenc Papp, Lola Toth, Beata Fabos, L. Kemény, K. Nagy, M. Széll

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Papillon–Lefevre 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/.

Original languageEnglish
Pages (from-to)217-228
Number of pages12
JournalMolecular Genetics and Genomic Medicine
Volume2
Issue number3
DOIs
Publication statusPublished - Jan 1 2014

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Cathepsin C
Databases
Mutation
Genes
Genetic Databases
Phenotype
5' Untranslated Regions
Periodontitis
Missense Mutation
Registries
Exons

Keywords

  • Aggressive periodontitis
  • CTSC gene
  • Haim
  • Lefevre syndrome
  • Munk syndrome
  • Papillon

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Ctsc and papillon–lefevre syndrome : Detection of recurrent mutations in hungarian patients, a review of published variants and database update. / Nagy, N.; Valyi, Peter; Csoma, Zsanett; Sulak, Adrienn; Tripolszki, Kornelia; Farkas, Katalin; Paschali, Ekaterine; Papp, Ferenc; Toth, Lola; Fabos, Beata; Kemény, L.; Nagy, K.; Széll, M.

In: Molecular Genetics and Genomic Medicine, Vol. 2, No. 3, 01.01.2014, p. 217-228.

Research output: Contribution to journalArticle

Nagy, N. ; Valyi, Peter ; Csoma, Zsanett ; Sulak, Adrienn ; Tripolszki, Kornelia ; Farkas, Katalin ; Paschali, Ekaterine ; Papp, Ferenc ; Toth, Lola ; Fabos, Beata ; Kemény, L. ; Nagy, K. ; Széll, M. / Ctsc and papillon–lefevre syndrome : Detection of recurrent mutations in hungarian patients, a review of published variants and database update. In: Molecular Genetics and Genomic Medicine. 2014 ; Vol. 2, No. 3. pp. 217-228.
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