Cury Vanessa F, Costa José E, Gomez Ricardo S, Boson Wolfanga L, Loures Cyro G, De Marco Luiz
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Department of Pharmacology, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais.
J Periodontol. 2002 Mar;73(3):307-312. doi: 10.1902/jop.2002.73.3.307.
Papillon-Lefévre syndrome (PLS) is a disorder that involves destruction of the periodontium and abnormal hyperkeratosis of the palms of the hands and soles of the feet. Mutations of the lysosomal protease cathepsin C gene (CTSC) have been associated with PLS. However, genotypic and phenotypic correlation has not been established. In the present study we investigated the CTSC gene in a Brazilian cohort affected by PLS.
Eight consanguineous members of a kindred with PLS were studied. DNA was extracted and all exons of the gene amplified by the polymerase chain reaction (PCR) using specific primers. Mutations were identified by DNA sequencing of the coding region and introns of the CTSC gene.
Sequence analysis of CTSC from subjects affected by PLS identified a novel mutation (587T → C) in exon 4, predicted to cause a Leu196Pro amino acid substitution. Three of 3 subjects were homozygous for cathepsin C mutations inherited from a common ancestor. One patient was heterozygous and showed plantar hyperkeratosis without periodontal disease. Two other family members were also heterozygous but did not present palmoplantar hyperkeratosis and/or periodontal disease.
This study describes a novel mutation of the cathepsin C gene in a Brazilian kindred with Papillon-Lefévre syndrome. J Periodontol 2002;73:307-312.
帕皮永-勒费弗尔综合征（PLS）是一种涉及牙周组织破坏以及手掌和足底异常角化过度的疾病。溶酶体蛋白酶组织蛋白酶C基因（CTSC）的突变与PLS相关。然而，基因型和表型之间的相关性尚未确立。在本研究中，我们对一个受PLS影响的巴西队列中的CTSC基因进行了研究。
对一个患有PLS的家族中的8名近亲成员进行了研究。提取DNA，并使用特异性引物通过聚合酶链反应（PCR）扩增该基因的所有外显子。通过对CTSC基因的编码区和内含子进行DNA测序来鉴定突变。
对受PLS影响的受试者的CTSC进行序列分析，在第4外显子中鉴定出一个新的突变（587T→C），预计会导致Leu196Pro氨基酸替代。3名受试者中有3名是从共同祖先遗传的组织蛋白酶C突变的纯合子。一名患者是杂合子，表现为足底角化过度但无牙周病。另外两名家族成员也是杂合子，但未出现掌跖角化过度和/或牙周病。
本研究描述了一个患有帕皮永-勒费弗尔综合征的巴西家族中组织蛋白酶C基因的新突变。《牙周病学杂志》2002年；73：307-312。
