Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome. J Dent Res 2007 Aug;86(8):735-8
Date
07/27/2007Pubmed ID
17652201DOI
10.1177/154405910708600809Scopus ID
2-s2.0-34547943884 (requires institutional sign-in at Scopus site) 8 CitationsAbstract
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.
Author List
Yang Y, Bai X, Liu H, Li L, Cao C, Ge LAuthor
Xiaowen Bai PhD Associate Professor in the Cell Biology, Neurobiology and Anatomy department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Aggressive PeriodontitisCathepsin C
Child, Preschool
China
DNA Mutational Analysis
Frameshift Mutation
Gene Deletion
Humans
Male
Mutation, Missense
Papillon-Lefevre Disease
