目的:研究组织蛋白酶C基因(CTSC,也称为二肽基肽酶I基因,DPPI)在一个患有Papillon-Lefevre综合征的汉族家庭中,并为表型提供分子基础。
方法:从先证者中提取基因组DNA,经父母和妹妹知情同意。进行聚合酶链反应和直接DNA测序以筛选组织蛋白酶C基因的突变。
结果:在患者中鉴定了组织蛋白酶C基因的复合杂合突变。该患者在外显子1中携带一个移码突变116delG,在外显子6中携带一个杂合突变C255S,在外显子7中携带一个错义突变F314S和一个有义突变E335E。四个变化是组织蛋白酶C基因的新突变,以前没有报道过。在正常对照中未检测到突变。
结论:组织蛋白酶C基因的突变可能是该家族Papillon-Lefevre综合征表型的原因。
OBJECTIVE: To investigate the mutational characteristics of the cathepsin C gene (CTSC, also known as dipeptidyl-peptidase I gene, DPP I) in a family of Han nationality with Papillon-Lefevre syndrome, and to provide the molecular basis for the phenotype.
METHODS: Genomic DNAs were extracted from the proband, his parents and younger sister after informed consent. Polymerase chain reaction and direct DNA sequencing were carried out to screen the mutations of the cathepsin C gene.
RESULTS: Compound heterozygous mutations of the cathepsin C gene were identified in the patient. The patient carried one frameshift mutation 116delG in exon 1, one heterozygous mutation C255S in exon 6, one missense mutation F314S and one sense mutation E335E in exon 7. The four changes were novel mutations of the cathepsin C gene, which had not been reported previously. None of the mutations were detected in normal controls.
CONCLUSIONS: Mutations of the cathepsin C gene are probably responsible for the phenotype of Papillon-Lefevre syndrome in this family.