[Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome]. Zhonghua Kou Qiang Yi Xue Za Zhi 2006 Oct;41(10):602-5
Date
11/30/2006Pubmed ID
17129448Scopus ID
2-s2.0-70350440012 (requires institutional sign-in at Scopus site) 3 CitationsAbstract
OBJECTIVE: To investigate the mutational characteristics of cathepsin C (CTSC) gene in two Chinese patients with Papillon-Lefèvre syndrome (PLS), and provide molecular basis for research of the pathogenesis of PLS.
METHODS: Peripheral blood samples were obtained from patients and their parents respectively. Genomic DNA were extracted after consents. Polymerase chain reaction, direct DNA sequencing and restriction enzyme reaction were performed to screen mutations of CTSC gene.
RESULTS: Compound heterozygous mutations of CTSC gene were identified in the two patients. Patient I carried the G139R and S260P mutations, patient II had the R250X and C258W mutations. The parents were heterozygous carriers without the clinical feature of PLS. None of the mutations were detected in normal controls. Furthermore, the S260P and C258W changes were novel mutations of CTSC gene, which had not been reported previously.
CONCLUSIONS: Mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome in two Chinese patients. The results extend the mutation spectrum of CTSC gene and also provide basis for gene diagnosis of PLS in China.
Author List
Yang Y, Bai XW, Liu HS, Cao CF, Ge LHAuthor
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
Cathepsin CChild, Preschool
Exons
Female
Humans
Male
Mutation, Missense
Papillon-Lefevre Disease
