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Novel Mutations of Cathepsin C Gene in Two Chinese Patients with Papillon-Lefèvre Syndrome

¹ Department of Pedodontics and
³ Department of Periodontology, School and Hospital of Stomatology, Peking University, 22 Zhong Guan Cun South Road, Beijing 100081, People’s Republic of China; and
² Stem Cell Research Center, Peking University Health Science Center, 38 Xue Yuan Road, Beijing 100083, People’s Republic of China

View larger version (110K): [in this window] [in a new window]   Figure 1. Clinical findings in Patient II. (A) Severe early-onset periodontitis affecting the primary dentition, with premature tooth loss. (B) Hyperkeratosis of the palms and knuckles. (C) Hyperkeratosis and fissures on the soles and heels. (D) Hyperkeratosis of both knees. (E) Hyperkeratosis of rump and buttocks.

View larger version (36K): [in this window] [in a new window]   Figure 2. Detection of a compound heterozygous CTSC gene mutation in Patient I. (A) Direct nucleotide sequencing of the PCR product spanning exon 3 revealed the heterozygous c.415G>mutation and the wild-type of the CTSC gene. (B) DNA sequence of exon 6 showing the heterozygous c.778T>mutation and the wild-type.

View larger version (36K): [in this window] [in a new window]   Figure 3. Detection of a compound heterozygous CTSC gene mutation in Patient II. (A) Direct sequencing of the PCR product spanning exon 6 revealed the heterozygous 851G>A mutation and wild-type. (B) DNA sequence of exon 1 showing a frameshift mutation after nucleotide 112 of the cDNA and the wild-type of the CTSC gene.

Journal of Dental Research, Vol. 86, No. 8, 735-738 (2007)
DOI: 10.1177/154405910708600809


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