PDF(Pubmed)
Abstract：
Papillon-Lefevre syndrome (PLS) (OMIM: 245000) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset periodontitis, resulting in the premature loss of the deciduous and permanent teeth. PLS is caused by mutations in the cathepsin C (CTSC) gene (OMIM: 602365), which has been mapped to chromosome 11q14-q21. Genetic analysis can help early and rapid diagnosis of PLS. Here we report on a Chinese PLS pedigree with two affected siblings. We have identified two novel compound heterozygous mutations c.763T>C (p.C255R) and c.1015C>A (p.R339S) in the CTSC gene. The two mutations expand the spectrum of CTSC mutations in PLS.
摘要：
Papillon-Lefevre综合征（PLS）（OMIM：245000）是一种罕见的常染色体隐性遗传疾病，其特征是掌足底角化过度和早发性牙周炎，导致乳牙和恒牙过早脱落。PLS是由组织蛋白酶C（CTSC）基因突变引起的（OMIM：602365），已定位到染色体11q14-q21。基因分析有助于PLS的早期和快速诊断。在这里，我们报告了一个有两个受影响的兄弟姐妹的中国PLS谱系。我们已经鉴定出两个新的复合杂合突变c.763T>C（p。C255R）和c.1015C>A（p。R339S）在CTSC基因中。这两个突变扩展了PLS中CTSC突变的谱。
