Involvement of and Interaction between WNT10A and EDA Mutations in Tooth   Agenesis Cases in the Chinese Population

doi:10.1371/journal.pone.0080393

CORC > 北京大学 > 生命科学学院

	Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population
	He, Huiying ; Han, Dong ; Feng, Hailan ; Qu, Hong ; Song, Shujuan ; Bai, Baojing ; Zhang, Zhenting
刊名	plos one
	2013
关键词	HYPOHIDROTIC ECTODERMAL DYSPLASIA NON-SYNDROMIC HYPODONTIA ECTODYSPLASIN-A GENETIC-BASIS INHERITED ANOMALIES HAIR-FOLLICLES KAPPA-B IDENTIFICATION MORPHOGENESIS EXPRESSION
DOI	10.1371/journal.pone.0080393
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.; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000327652100035&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701 ; Multidisciplinary Sciences; SCI(E); PubMed; 7; ARTICLE; 11; e80393; 8
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/189766]
专题	生命科学学院
推荐引用方式 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.
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.
MLA	He, Huiying,et al."Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population".plos one (2013).