Hu Ting-Ting, Zou Xiao-Yan, Ye Fang
Dept. of Periodontics, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine, Jiangxi Province, Nanchang 330006.
Hua Xi Kou Qiang Yi Xue Za Zhi. 2019 Feb 1;37(1):31-36. doi: 10.7518/hxkq.2019.01.006.
This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS.
Peripheral blood samples were obtained from the PLS proband and his family members (his parents and younger brother) for genomic DNA extraction. The coding region and exon boundaries of the CTSC gene were amplified and sequenced by polymerase chain reaction and direct sequencing of DNA.
Compound heterozygous mutations of CTSC gene were identified in the patient. A heterozygous missense mutation occurred in the 800th base of exon 6, and the base T in the base pair was replaced by C (c.800T>C). The encoded amino acid leucine changed to proline (p. L267P). A heterozygous missense mutation occurred in the 1015th base of exon 7, and base C in the base pair was replaced by T (c.1015C>T). The encoded amino acid arginine changed to cysteine (p.R339C). Among the mutations, c.800T>C originated from the mother, c.1015C>T was identified from the father. No mutations were detected in the younger brother.
Mutations of CTSC gene are responsible for the phenotype of PLS.
本研究旨在调查一名中国帕皮永-勒费夫尔综合征（PLS）患者组织蛋白酶C（CTSC）基因的基因突变特征，并进一步确定PLS表型的遗传基础。
采集PLS先证者及其家庭成员（其父母和弟弟）的外周血样本以提取基因组DNA。通过聚合酶链反应和DNA直接测序对CTSC基因的编码区和外显子边界进行扩增和测序。
在该患者中鉴定出CTSC基因的复合杂合突变。外显子6第800位碱基发生杂合错义突变，碱基对中的碱基T被C取代（c.800T>C）。编码的氨基酸亮氨酸变为脯氨酸（p.L267P）。外显子7第1015位碱基发生杂合错义突变，碱基对中的碱基C被T取代（c.1015C>T）。编码的氨基酸精氨酸变为半胱氨酸（p.R339C）。在这些突变中，c.800T>C来自母亲，c.1015C>T来自父亲。其弟弟未检测到突变。
CTSC基因的突变是PLS表型的原因。
