title: Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
abstract: Papillon-Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103-105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.
authors.affiliation: Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.
authors.forename: Burak
authors.initials: B
authors.lastname: Tekin
authors.affiliation: Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Yucelten
authors.affiliation: Institute of Human Genetics, University of Cologne, Cologne, Germany.
authors.forename: Filippo
authors.initials: F
authors.lastname: Beleggia
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Ofer
authors.initials: O
authors.lastname: Sarig
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.|Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D000293:Adolescent; D020789:Cathepsin C / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D035583:Rare Diseases; D012494:Sampling Studies; D012720:Severity of Illness Index; D014421:Turkey; D055815:Young Adult
chemical_list: D020789:Cathepsin C