Novel cathepsin C mutation in a Brazilian family with Papillon-Lefevre syndrome: case report and mutation update.

ABSTRACT:

Purpose

Papilion-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide. The purpose of this study was to report a novel cathepsin C mutation in a Brazilian patient.

Methods

A 4-year-old boy presented with aggressive periodontitis, recession, missing teeth, and hyperkeratosis of the palms of hands and soles. Peripheral blood samples were obtained from family members for genomic DNA isolation. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced.

Results

The patient had a PLS phenotype, which included PK and

SUBMITTER: Pallos D 

PROVIDER: S-EPMC4617240 | biostudies-literature | 2010 Jan-Apr

REPOSITORIES: biostudies-literature