A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.

ABSTRACT:

Background

Papilon-Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disease characterized by aggressive periodontitis and palmoplantar keratoderma. The prevalence of PLS in the general population is one to four cases per million. Although the etiology and pathogenic mechanisms underlying PLS remain largely unclear, existing evidence shows loss-of-function mutations of the cathepsin C gene (CTSC; OMIM 602365) could cause PLS. Here we found a novel variant of the CTSC gene in a Chinese PLS family and predicted the effect of the variant on the physic-chemical characters and tertiary structure of the protein.

Methods

The 1-7 coding exons and exon-intron boundaries of CTSC gene of the proband and her family were amplified and sequenced directly, and Chromas was u

SUBMITTER: Yu H 

PROVIDER: S-EPMC8372118 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature