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A Novel Mutation of the Cathepsin C Gene in Papillon‐Lefévre Syndrome
Author(s) -
Cury Vanessa F.,
Costa José E.,
Gomez Ricardo S.,
Boson Wolfanga L.,
Loures Cyro G.,
De Marco Luiz
Publication year - 2002
Publication title -
journal of periodontology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.036
H-Index - 156
eISSN - 1943-3670
pISSN - 0022-3492
DOI - 10.1902/jop.2002.73.3.307
Subject(s) - exon , genetics , cathepsin c , gene , palmoplantar keratoderma , mutation , biology , hyperkeratosis , microbiology and biotechnology , medicine , cathepsin d , enzyme , biochemistry
Background: Papillon‐Lefévre syndrome (PLS) is a disorder that involves destruction of the periodontium and abnormal hyperkeratosis of the palms of the hands and soles of the feet. Mutations of the lysosomal protease cathepsin C gene (CTSC) have been associated with PLS. However, genotypic and phenotypic correlation has not been established. In the present study we investigated the CTSC gene in a Brazilian cohort affected by PLS. Methods: Eight consanguineous members of a kindred with PLS were studied. DNA was extracted and all exons of the gene amplified by the polymerase chain reaction (PCR) using specific primers. Mutations were identified by DNA sequencing of the coding region and introns of the CTSC gene. Results: Sequence analysis of CTSC from subjects affected by PLS identified a novel mutation (587T → C) in exon 4, predicted to cause a Leu196Pro amino acid substitution. Three of 3 subjects were homozygous for cathepsin C mutations inherited from a common ancestor. One patient was heterozygous and showed plantar hyperkeratosis without periodontal disease. Two other family members were also heterozygous but did not present palmoplantar hyperkeratosis and/or periodontal disease. Conclusions: This study describes a novel mutation of the cathepsin C gene in a Brazilian kindred with Papillon‐Lefévre syndrome. J Periodontol 2002;73:307‐312.