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学科主题: 口腔医学
题名:
Novel mutations of cathepsin c gene in two chinese patients with Papillon-Lefevre syndrome
作者: Yang, Y.; Bai, X.; Liu, H.; Li, L.; Cao, C.; Ge, L.
关键词: cathepsin C mutation ; Papillon-Lefevre syndrome ; pre-pubertal periodontitis
刊名: JOURNAL OF DENTAL RESEARCH
发表日期: 2007-08-01
卷: 86, 期:8, 页:735-738
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: PREPUBERTAL PERIODONTITIS ; AGGRESSIVE PERIODONTITIS ; CHROMOSOME 11Q14 ; IDENTIFICATION ; LOCALIZATION ; KERATOSIS
英文摘要:

Papillon-Lefevre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefevre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefevre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous mutation (c.415 G>A and c.778 T>C) in one patient, and two novel compound heterozygous mutations (c.851G>A and c.112delCCTG) in the other patient. Our novel discovery indicates that the phenotypes observed in these two patients are due to the CTSC gene mutation.

语种: 英语
WOS记录号: WOS:000248284100009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65000
Appears in Collections:北京大学口腔医学院_牙周科_期刊论文

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作者单位: 1.Peking Univ, Sch & Hosp Stomatol, Dept Pedodont, Beijing 100081, Peoples R China
2.Peking Univ, Sch & Hosp Stomatol, Dept Periodontol, Beijing 100081, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Stem Cell Res Ctr, Beijing 100083, Peoples R China

Recommended Citation:
Yang, Y.,Bai, X.,Liu, H.,et al. Novel mutations of cathepsin c gene in two chinese patients with Papillon-Lefevre syndrome[J]. JOURNAL OF DENTAL RESEARCH,2007,86(8):735-738.
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