[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome].

[papillon-lefèvre syndrome]

To investigate the mutational characteristics of the cathepsin C gene (CTSC , also known as dipeptidyl-peptidase I gene , DPP I ) in a family of Han nationality with Papillon-Lefevre syndrome , and to provide the molecular basis for the phenotype .G enomic DNAs were extracted from the proband , his parents and younger sister after informed consent . Polymerase chain reaction and direct DNA sequencing were carried out to screen the mutations of the cathepsin C gene .Compound heterozygous mutations of the cathepsin C gene were identified in the patient . The patient carried one frameshift mutation 116 delG in exon 1 , one heterozygous mutation C 2 55 S in exon 6 , one missense mutation F 3 14 S and one sense mutation E 335 E in exon 7 . The four changes were novel mutations of the cathepsin C gene , which had not been reported previously . None of the mutations were detected in normal controls .Mutations of the cathepsin C gene are probably responsible for the phenotype of Papillon-Lefevre syndrome in this family .