title: [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
abstract: Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.
authors.forename: Péter
authors.initials: P
authors.lastname: Vályi
authors.forename: Katalin
authors.initials: K
authors.lastname: Farkas
authors.forename: Kornélia
authors.initials: K
authors.lastname: Tripolszki
authors.forename: Adrienn
authors.initials: A
authors.lastname: Sulák
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.forename: Katalin
authors.initials: K
authors.lastname: Nagy
mesh_terms: D000328:Adult; D010520:Aggressive Periodontitis / Q000235:genetics / Q000534:rehabilitation; D020789:Cathepsin C / Q000235:genetics*; D005060:Europe; D005260:Female; D006801:Humans; D006814:Hungary; D009066:Mouth, Edentulous / Q000235:genetics* / Q000534:rehabilitation*; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D020789:Cathepsin C