Yang Yuan, Bai Xiao-wen, Liu Hong-sheng, Cao Cai-fang, Ge Li-hong
Department of Pedodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2006 Oct;41(10):602-5.
To investigate the mutational characteristics of cathepsin C (CTSC) gene in two Chinese patients with Papillon-Lefèvre syndrome (PLS), and provide molecular basis for research of the pathogenesis of PLS.
Peripheral blood samples were obtained from patients and their parents respectively. Genomic DNA were extracted after consents. Polymerase chain reaction, direct DNA sequencing and restriction enzyme reaction were performed to screen mutations of CTSC gene.
Compound heterozygous mutations of CTSC gene were identified in the two patients. Patient I carried the G139R and S260P mutations, patient II had the R250X and C258W mutations. The parents were heterozygous carriers without the clinical feature of PLS. None of the mutations were detected in normal controls. Furthermore, the S260P and C258W changes were novel mutations of CTSC gene, which had not been reported previously.
Mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome in two Chinese patients. The results extend the mutation spectrum of CTSC gene and also provide basis for gene diagnosis of PLS in China.
研究两名中国掌跖角化牙周破坏综合征（PLS）患者组织蛋白酶C（CTSC）基因的突变特征，为PLS发病机制的研究提供分子基础。
分别采集患者及其父母的外周血样本，征得同意后提取基因组DNA。采用聚合酶链反应、直接DNA测序和限制性内切酶反应筛选CTSC基因的突变。
两名患者均鉴定出CTSC基因的复合杂合突变。患者I携带G139R和S260P突变，患者II有R250X和C258W突变。父母为杂合携带者，无PLS临床特征。正常对照未检测到任何突变。此外，S260P和C258W变化是CTSC基因的新突变，此前未见报道。
CTSC基因突变是两名中国患者掌跖角化牙周破坏综合征表型的原因。该结果扩展了CTSC基因的突变谱，也为中国PLS的基因诊断提供了依据。
