Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
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DOI：
10.1016/j.archoralbio.2013.12.009
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发表时间：
2014-03-01
影响因子：
3
通讯作者：
Feng, Hailan
中科院分区：
文献类型：
--
作者：
Wong, Singwai;Liu, Haochen;Feng, Hailan
目的：少齿症是先天性缺失六颗或更多恒牙（不包括第三磨牙），可能导致咀嚼功能障碍、言语改变、美学问题和咬合不正。迄今为止，已知EDA、AXIN 2、MSX 1、PAX 9、WNT 10 A、EDAR、EDARADD、NEMO和KRT 17的突变与非综合征性少牙相关。本研究的目的是寻找96例非综合征性oligodontia.Design患者的AXIN2突变：我们进行了突变分析的10个外显子的AXIN2基因在96例孤立的非综合征性oligodontia.Results：我们确定了两个新的错义突变（外显子3 c.923C > T和外显子11 c.2490G > C）在两名患者。其中一个突变（c.923C > T）导致Thr308Met替换，另一个突变（c.2490G > C）导致Met830Ile替换。我们的研究结果表明，AXIN 2可以被视为一个候选基因突变检测的个人在中国人群中的非综合征性少牙。(C)2014爱思唯尔有限公司版权所有。
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.