Yuanjiao Chen, Chen-Jun Li
Dept. of Stomatology, Chengdu Military General Hospital, Chengdu 610017, China.
Hua Xi Kou Qiang Yi Xue Za Zhi. 2016 Aug 1;34(4):346-349. doi: 10.7518/hxkq.2016.04.005.
This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS.
With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced using poly-merase chain reaction and direct sequencing of DNA.
Compound heterozygous mutations of CTSC gene were iden-tified in the patient. The proband carries one heterozygous nonsense mutation c.754C>T in exon 5 and one heterozygous missense mutation c.1040A>G in exon 7. Both parents were heterozygous carriers without the clinical symptoms of PLS. None of the mutations were detected in the proband's sister.
CONCLUSIONS: The study proves that mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome. .
本研究旨在调查一名中国帕皮永 - 勒费弗尔综合征（PLS）患者组织蛋白酶C（CTSC）基因的基因突变特征，进而进一步明确PLS表型的遗传基础，并获取可用于指导PLS诊断和治疗的遗传信息。
经其同意，从先证者及其家庭成员（其父母和姐姐）采集外周血样本以提取基因组DNA。使用聚合酶链反应和DNA直接测序对CTSC基因的编码区和外显子/内含子边界进行扩增和测序。
在患者中鉴定出CTSC基因的复合杂合突变。先证者携带一个位于外显子5的杂合无义突变c.754C>T和一个位于外显子7的杂合错义突变c.1040A>G。父母均为杂合携带者，无PLS临床症状。先证者的姐姐未检测到任何突变。
该研究证明CTSC基因的突变是帕皮永 - 勒费弗尔综合征表型的病因。
