Cathepsin C gene Mutations and Functional Analysis of A Chinese Papillon-Lefèvre Syndrome Family

doi:10.13701/j.cnki.kqyxyj.2022.07.007

Abstract

Abstract: Objective: To investigate the mutational CTSC gene in two Chinese patients with Papillon-Lefèvre syndrome (PLS; OMIM 245000) and analyze the cathepsin C functions. Methods: Genomic DNA was respectively isolated from peripheral blood samples of the patients and their parents. The CTSC gene was extracted and direct sequencing. The protein structure predictive server I-TASSER was used to analyze the change of Cathepsin C structure. Leukocytes were isolated from the patients and their parents's whole blood. Leukocyte cathepsin C activity was measured. Results: A compound heterozygous mutations c.774 C>G and c.1033 T>A in the CTSC was detected in two patients. The c.1033 T>A mutation was a novel substitution. After analysis of cathepsin C protein's structure, compared with wild-type CTSC, the predictive protein's structure after c.774 C>G and c.1033 T>A mutations had no obvious change. Leukocyte cathepsin C activity of the two patients was lower than normal contrasts on an average of about 77%. The cathepsin C activity of their father and mother reduced about 23% and 63%, respectively. Conclusion: In this research, a compound heterozygous mutations (c.774 C>G and c.1033 T>A) of CTSC gene were identified in two patients. The c.1033 T>A mutation is first reported and this kind of compound heterozygous mutation leads to a decrease of cathepsin C activity, but the protein structures have no change.

Key words: Papillon-Lefèvre syndrome, CTSC gene, cathepsin C, gene mutation

PENG Hailong, YANG Yuan, QIN Man. Cathepsin C gene Mutations and Functional Analysis of A Chinese Papillon-Lefèvre Syndrome Family[J]. Journal of Oral Science Research, 2022, 38(7): 616-621.

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