IR@PKUHSC  > 北京大学基础医学院
学科主题口腔医学
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population
He, Huiying1; Han, Dong1; Feng, Hailan1; Qu, Hong2; Song, Shujuan3; Bai, Baojing4; Zhang, Zhenting4
刊名PLOS ONE
2013-11-27
DOI10.1371/journal.pone.0080393
8期:11
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]HYPOHIDROTIC ECTODERMAL DYSPLASIA ; NON-SYNDROMIC HYPODONTIA ; ECTODYSPLASIN-A ; GENETIC-BASIS ; INHERITED ANOMALIES ; HAIR-FOLLICLES ; KAPPA-B ; IDENTIFICATION ; MORPHOGENESIS ; EXPRESSION
英文摘要

Background: 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), Schopf-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-kappa B signaling pathways, we also checked EDAR and EDARADD in this study.

Methods: 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.

Results: 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.

Conclusions: 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.

语种英语
WOS记录号WOS:000327652100035
引用统计
被引频次:18[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/400002259/66442
专题北京大学基础医学院
北京大学口腔医学院_口腔修复科
作者单位1.Peking Univ, Coll Life Sci, Beijing 100871, Peoples R China
2.Peking Univ, Dept Prosthodont, Sch & Hosp Stomatol, Beijing 100871, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Dept Genet, Beijing 100871, Peoples R China
4.Capital Med Univ, Sch Stomatol, Dept Prosthodont, Beijing, Peoples R China
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GB/T 7714
He, Huiying,Han, Dong,Feng, Hailan,et al. Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population[J]. PLOS ONE,2013,8(11).
APA He, Huiying.,Han, Dong.,Feng, Hailan.,Qu, Hong.,Song, Shujuan.,...&Zhang, Zhenting.(2013).Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population.PLOS ONE,8(11).
MLA He, Huiying,et al."Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population".PLOS ONE 8.11(2013).
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