Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and north Africa with Papillon-Lefevre syndrome

[摘要] Papillon-Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition. Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon-Lefevre syndrome. Cathepsin C is the least understood of the lysosomal cysteine proteases; it has been reported to participate in both intracellular and extracellular cleavage of proteins and activation of serine proteases in immune and inflammatory cells. We report here eight new mutations in Papillon-Lefevre syndrome families: four deletions and four point mutations, including a missense mutation in the propeptide chain that could help elucidate structure-function relationships in this protein. We also found that the 458C > T mutation, first reported in two families by Hart et al (2000c), was a neutral polymorphism in our families, as suggested by Allende et al (Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and novel symptomless mutation. Hum Mutat 17:152-153, 2001).

[发布日期] 2001-12-01

[关键词] cathepsin C mutations;chromosome 11q14;palmoplantar keratoderma;Papillon-Lefevre syndrome;periodontitis