title: Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
abstract: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization caused by homozygous mutations in the gene encoding lysosomal protease cathepsin C (CTSC). It is clinically characterized by transgredient palmoplantar keratoderma (PPK) and periodontitis. A 15-year-old boy presenting with PPK from the age of 6 months and late-onset periodontitis that began at the age of 12 years is described. Mutation analysis revealed a homozygous nonsense mutation (p.Y304X) in exon 7 of the CTSC gene. Late-onset periodontitis in a patient with Papillon-Lefèvre syndrome is a rare phenotypic variation.
authors.affiliation: Department of Dermatology, Venereology, and Leprosy, Sri Siddhartha Medical College, Tumkur, India.
authors.forename: Shivanna
authors.initials: S
authors.lastname: Ragunatha
authors.forename: Mudalagirigowda
authors.initials: M
authors.lastname: Ramesh
authors.forename: Panagar
authors.initials: P
authors.lastname: Anupama
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Kapoor
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Bhat
mesh_terms: D000293:Adolescent; D020789:Cathepsin C / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008297:Male; D010214:Papillon-Lefevre Disease / Q000235:genetics* / Q000503:physiopathology; D010518:Periodontitis / Q000235:genetics* / Q000503:physiopathology; D011379:Prognosis; D035583:Rare Diseases; D018570:Risk Assessment; D013997:Time Factors
chemical_list: D018389:Codon, Nonsense; D020789:Cathepsin C