Institutional Repository of Peking University School of Basic Medical Sciences
|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|
|WOS标题词||Science & Technology|
|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|
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.
|项目编号||81271121 ; 81100725|
|资助机构||National Natural Science Foundation of China ; Major Clinical Specialty Project of Chinese Ministry of Health|
|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
|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).|
|Involvement of and I（8618KB）||期刊论文||出版稿||开放获取||CC BY-NC-SA||浏览 请求全文|