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Novel Mutations of Cathepsin C Gene in Two Chinese Patients with Papillon-Lefèvre Syndrome

¹ Department of Pedodontics and
³ Department of Periodontology, School and Hospital of Stomatology, Peking University, 22 Zhong Guan Cun South Road, Beijing 100081, People’s Republic of China; and
² Stem Cell Research Center, Peking University Health Science Center, 38 Xue Yuan Road, Beijing 100083, People’s Republic of China

^* corresponding author, gelh{at}public.bta.net.cn

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.

KEY WORDS: Cathepsin C mutation • Papillon-Lefèvre syndrome • pre-pubertal periodontitis