Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.
OBJECTIVE
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 early-onset severe periodontitis. Sequence analysis showed a novel CTSC mutation (c.267-268del) present in the homozygous state.


CONCLUSIONS
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.
Pallos
Debora
D
Department of Periodontics, University of Taubaté, São Paulo, Brazil. dpallos@netpoint.com.br
Acevedo
Ana Carolina
AC
Mestrinho
Heliana Dantas
HD
Cordeiro
Ilia
I
Hart
Thomas C
TC
D001938:Brazil; D020789:Cathepsin C / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D008297:Male; D009154:Mutation; D010214:Papillon-Lefevre Disease / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D020789:Cathepsin C