IR@PKUHSC  > 北京大学口腔医学院  > 牙周科
学科主题口腔医学
Novel mutations of cathepsin c gene in two chinese patients with Papillon-Lefevre syndrome
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
2007-08-01
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
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65000
专题北京大学口腔医学院_牙周科
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
推荐引用方式
GB/T 7714
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.
APA Yang, Y.,Bai, X.,Liu, H.,Li, L.,Cao, C.,&Ge, L..(2007).Novel mutations of cathepsin c gene in two chinese patients with Papillon-Lefevre syndrome.JOURNAL OF DENTAL RESEARCH,86(8),735-738.
MLA Yang, Y.,et al."Novel mutations of cathepsin c gene in two chinese patients with Papillon-Lefevre syndrome".JOURNAL OF DENTAL RESEARCH 86.8(2007):735-738.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Yang, Y.]的文章
[Bai, X.]的文章
[Liu, H.]的文章
百度学术
百度学术中相似的文章
[Yang, Y.]的文章
[Bai, X.]的文章
[Liu, H.]的文章
必应学术
必应学术中相似的文章
[Yang, Y.]的文章
[Bai, X.]的文章
[Liu, H.]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。