title: Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.
abstract: Papillon-Lefèvre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefèvre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous mutation (c.415 G>A and c.778 T>C) in one patient, and two novel compound heterozygous mutations (c.851G>A and c.112delCCTG) in the other patient. Our novel discovery indicates that the phenotypes observed in these two patients are due to the CTSC gene mutation.
authors.affiliation: Department of Pedodontics, Peking University, Beijing, People's Republic of China.
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: X
authors.initials: X
authors.lastname: Bai
authors.forename: H
authors.initials: H
authors.lastname: Liu
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: C
authors.initials: C
authors.lastname: Cao
authors.forename: L
authors.initials: L
authors.lastname: Ge
mesh_terms: D010520:Aggressive Periodontitis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D020789:Cathepsin C / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000235:genetics*
chemical_list: D020789:Cathepsin C