PMC3563609_01
Representative clinical features of patients with Papillon-Lefevre Syndrome. A) Case 2P: Overt hyperkeratosis in hands (dorsal view). With gingivitis, missing teeth and periodontal pocket. B) Case 5P: Mild hyperkeratosis of sole and mobile teeth. C) Case 6P: Psoriasiform lesions over palms and knees.
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F1
Case 2P: 14 year-old male (Figure 1A), showed overt hyperkeratosis and severe periodontitis. Case 5P: 12 year-old female (Figure 1B), with mild hyperkeratosis. Case 6P: 3 year-old male (Figure 1C), showed overt hyperkeratosis.
Mutational analysis of Cathepsin C gene. A) Representative results of CTSC gene exon scanning by single-strand conformation polymorphism (SSCP). Reannealed products, in silver-stained polyacrylamide gels, of exons 2 (left) and 3 (right) in cases 6P and 4P showed differences (arrows) against controls 2 and 6. B) Representative electropherograms of exon 2 showing genotypes (arrows) homozygote normal T/T (control 1), heterozygote T/G (parent 1 F) and homozygote mutated G/G (case 1P1), for mutation c.203 T >; G. Exon 3, showing genotypes (arrows) homozygote normal C/C (control 4) and heterozygote C/T (case 2P) for polymorphism c.458C >; T.
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F2
There were changes in reannealed products in exons 2 and 3 from patients and relatives (Figure 2A). On sequencing (nt 177 to 228 of exon 2, and nt 433 to 484 of exon 3), nucleotide changes were found at positions 203 (T >; G) of exon 2 and 458 (C >; T) of exon 3 (Figure 2B).
Gene polymorphisms analysis. PCR-RFLPs products of genotypes homozygous normal T/T, heterozygous T/G and homozygous mutated G/G for mutation c.203 T >; G of exon 2 (left). Genotypes homozygous normal C/C and heterozygous C/T, for c.458C >; T polymorphism of exon 3 (right). M, 50 bp DNA ladder (Invitrogen).
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F3
Positive samples were confirmed for mutations c.203 T >; G and c.458C >; T by PCR-RFLPs (Figure 3). 