Yang Y, Bai X, Liu H, Li L, Cao C, Ge L
Department of Pedodontics, Peking University, Beijing, People's Republic of China.
J Dent Res. 2007 Aug;86(8):735-8. doi: 10.1177/154405910708600809.
Papillon-Lefèvre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefèvre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous mutation (c.415 G>A and c.778 T>C) in one patient, and two novel compound heterozygous mutations (c.851G>A and c.112delCCTG) in the other patient. Our novel discovery indicates that the phenotypes observed in these two patients are due to the CTSC gene mutation.
掌跖角化牙周破坏综合征（PLS）是一种遗传性人类疾病，其特征为早发性牙周炎和掌跖角化过度。溶酶体蛋白酶组织蛋白酶C（CTSC）基因突变已被证明是掌跖角化牙周破坏综合征的遗传病因。中国有几例病例报告，但尚无关于掌跖角化牙周破坏综合征基因分析的研究。我们研究了两名患有掌跖角化牙周破坏综合征且出现过早牙齿脱落和掌跖角化过度的中国患者。对CTSC基因进行突变筛查和序列分析发现，一名患者存在复合杂合突变（c.415 G>A和c.778 T>C），另一名患者存在两个新的复合杂合突变（c.851G>A和c.112delCCTG）。我们的新发现表明，这两名患者观察到的表型是由CTSC基因突变引起的。
