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学科主题: 基础医学
题名:
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
作者: Wong, Singwai1; Liu, Haochen1; Bai, Baojing2; Chang, Huaiguang1; Zhao, Hongshan3,4; Wang, Yixiang5; Han, Dong1; Feng, Hailan1
关键词: Non-syndromic oligodontia ; Mutation screening ; AXIN2
刊名: ARCHIVES OF ORAL BIOLOGY
发表日期: 2014-03-01
DOI: 10.1016/j.archoralbio.2013.12.009
卷: 59, 期:3, 页:349-353
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]: TOOTH AGENESIS ; PAX9 ; MOUSE ; HYPODONTIA ; MSX1
英文摘要:

Objective: Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia.

Design: We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia.

Results: We identified two novel missense mutations (Exon 3 c.923C > T and Exon 11 c.2490G > C) in two patients. One mutation (c.923C > T) results in a Thr308Met substitution and the other mutation (c.2490G > C) results in a Met830Ile substitution.

Conclusions: This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population. (C) 2014 Elsevier Ltd. All rights reserved.

语种: 英语
所属项目编号: 7092113 ; 81070814 ; 81100725 ; 2007-1005
项目资助者: Beijing Natural Science Foundation ; National Natural Science Foundation ; Capital Medical Developing Foundation
WOS记录号: WOS:000333489600016
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52055
Appears in Collections:基础医学院_医学遗传学系_期刊论文

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作者单位: 1.Beijing Stomatol Hosp, Dept Prosthodont, Beijing, Peoples R China
2.Peking Univ, Dept Prosthosdont, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
3.Peking Univ, Dept Med Genet, Hlth Sci Ctr, Beijing 100081, Peoples R China
4.Peking Univ, Ctr Human Dis Genom, Hlth Sci Ctr, Beijing 100081, Peoples R China
5.Peking Univ, Cent Lab, Sch & Hosp Stornatol, Beijing 100081, Peoples R China

Recommended Citation:
Wong, Singwai,Liu, Haochen,Bai, Baojing,et al. Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia[J]. ARCHIVES OF ORAL BIOLOGY,2014,59(3):349-353.
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