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学科主题基础医学
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
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
2014-03-01
DOI10.1016/j.archoralbio.2013.12.009
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
WOS记录号WOS:000333489600016
项目编号7092113 ; 81070814 ; 81100725 ; 2007-1005
资助机构Beijing Natural Science Foundation ; National Natural Science Foundation ; Capital Medical Developing Foundation
引用统计
被引频次:14[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52055
专题北京大学基础医学院_医学遗传学系
北京大学基础医学院
北京大学口腔医学院_中心实验室
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
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GB/T 7714
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.
APA Wong, Singwai.,Liu, Haochen.,Bai, Baojing.,Chang, Huaiguang.,Zhao, Hongshan.,...&Feng, Hailan.(2014).Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.ARCHIVES OF ORAL BIOLOGY,59(3),349-353.
MLA Wong, Singwai,et al."Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia".ARCHIVES OF ORAL BIOLOGY 59.3(2014):349-353.
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