Mutation analysis of cathepsin C gene in a Chinese patient with pre-pubertal periodontitis

Mutation analysis of cathepsin C gene in a Chinese

patient with pre-pubertal periodontitis

YANG Yuan;BAI Xiao-wen;SONG Shu-juan;GE Li-hong;CAO Cai-fang

【期刊名称】《中华医学杂志（英文版）》 【年(卷),期】2005(118)013

【摘要】@@ Pre-pubertal periodontitis (PPP) is a rare and rapidly progressive form of early onset periodontitis resulting in premature tooth loss of primary and permanent dentitions. Mutations in cathepsin C (CTSC) gene have been found in patients with pre-pubertal periodontitis and Papillon-Lefevre syndrome which also characterized with severe periodontitis and palmoplantar hyperkera-tosis.1-3 To date, more than 40 mutations of CTSC gene have been identified in ethnically diverse people worldwide.4 However, there is no such genetic analysis in China. In the present study, we report the mutation analysis of a Chinese patient with PPP. 【总页数】4页(1109-1112) 【

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pre-pubertal

periodontitis;Papillon-Lef

鑦

re

syndrome;cathepsin C;gene mutation

【作者】YANG Yuan;BAI Xiao-wen;SONG Shu-juan;GE Li-hong;CAO Cai-fang

【作者单位】Department of Pedodontics, Peking University School of Stomatology, Beijing 100081, China;Peking University Stem Cell