Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
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WNT10A 和 EDA 突变在中国人群牙齿发育不全病例中的参与和相互作用
DOI：
10.1371/journal.pone.0080393
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Zhang Z
中科院分区：
文献类型：
--
作者：
He H;Han D;Feng H;Qu H;Song S;Bai B;Zhang Z
牙齿发育不全是人类最常见的、通常是可遗传的发育异常。虽然WNT 10A基因突变已知会引起罕见的牙齿发育不全综合征，包括甲-牙胚发育不良（OODD），Schöpf-Schulz-Passarge综合征（SSPS），少汗性外胚层发育不良（HED），以及最近超过一半的孤立性少牙症病例，但WNT 10A突变的基因型-表型相关性和遗传方式仍不清楚。WNT 10A突变的表型表达显示出高度的变异性，表明其他基因可能与WNT 10A一起调节外胚层器官发育。此外，其他基因突变的参与，如EDA，也与HED和孤立的牙齿发育不全有关，尚不清楚。因此，我们假设EDA突变与WNT 10A突变相互作用，在牙齿发育不全中发挥作用。另外，EDA、EDAR和EDARADD编码的信号分子参与了Eda/Edar/NF-κB信号通路，本研究还对EDAR和EDARADD进行了检测。 对88例孤立性缺牙患者和26例综合征性牙发育不全患者的WNT 10A、EDA、EDAR和EDARADD基因进行测序。分析了两种突变的WNT 10A和两种突变的EDA蛋白的结构。在88例孤立性缺牙病例中有2例（2.27%）和26例综合征性牙发育不全病例中有4例（15.38%）同时检测到WNT 10A和EDA双基因突变。未发现EDAR和EDARADD基因突变，WNT 10A和EDA双基因突变可导致中国人少牙症和综合征性牙发育不全。此外，我们的研究结果将大大扩大牙齿发育不全的基因型谱。
Dental agenesis is the most common, often heritable, developmental anomaly in humans. Although WNT10A gene mutations are known to cause rare syndromes associated with tooth agenesis, including onycho-odontodermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS), hypohidrotic ectodermal dysplasia (HED), and more than half of the cases of isolated oligodontia recently, the genotype-phenotype correlations and the mode of inheritance of WNT10A mutations remain unclear. The phenotypic expression with WNT10A mutations shows a high degree of variability, suggesting that other genes might function with WNT10A in regulating ectodermal organ development. Moreover, the involvement of mutations in other genes, such as EDA, which is also associated with HED and isolated tooth agenesis, is not clear. Therefore, we hypothesized that EDA mutations interact with WNT10A mutations to play a role in tooth agenesis. Additionally, EDA, EDAR, and EDARADD encode signaling molecules in the Eda/Edar/NF-κB signaling pathways, we also checked EDAR and EDARADD in this study. WNT10A, EDA, EDAR and EDARADD were sequenced in 88 patients with isolated oligodontia and 26 patients with syndromic tooth agenesis. The structure of two mutated WNT10A and two mutated EDA proteins was analyzed. Digenic mutations of both WNT10A and EDA were identified in 2 of 88 (2.27%) isolated oligodontia cases and 4 of 26 (15.38%) syndromic tooth agenesis cases. No mutation in EDAR or EDARADD gene was found. WNT10A and EDA digenic mutations could result in oligodontia and syndromic tooth agenesis in the Chinese population. Moreover, our results will greatly expand the genotypic spectrum of tooth agenesis.
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