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

[papillon-lefèvre syndrome]

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 .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 .The patient had a PLS phenotype , which included PK and early -onset severe periodontitis . Sequence analysis showed a novel CTSC mutation (c .267 -268 del ) present in the homozygous state .This report described a novel mutation in a family with Brazilian Papillon-Lefèvre syndrome and presented a review of all cathepsin C (65 ) mutations reported to date .