Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.

@article{Yang2007NovelMO,
  title={Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lef{\`e}vre syndrome.},
  author={Yuancheng Yang and Xingrong Bai and Hong-Xu Liu and Liang Li and C Cao and Liangfa Ge},
  journal={Journal of dental research},
  year={2007},
  volume={86 8},
  pages={735-8}
}
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… CONTINUE READING