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学科主题: 基础医学
题名:
EDA Gene Mutations Underlie Non-syndromic Oligodontia
作者: Song, S.1,4; Han, D.2; Qu, H.3; Gong, Y.2; Wu, H.2; Zhang, X.2; Zhong, N.1,4,5; Feng, H.2
关键词: EDA gene ; oligodontia ; mutation ; non-syndromic
刊名: JOURNAL OF DENTAL RESEARCH
发表日期: 2009-02-01
DOI: 10.1177/0022034508328627
卷: 88, 期:2, 页:126-131
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: HYPOHIDROTIC ECTODERMAL DYSPLASIA ; TOOTH AGENESIS ; MISSENSE MUTATION ; ECTODYSPLASIN-A ; HYPODONTIA ; ANOMALIES ; HOMEODOMAIN ; PROTEIN ; ABSENCE ; FAMILY
英文摘要:

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.

语种: 英语
所属项目编号: 985-2-035-39 ; 7063099 ; D43 TW06176
项目资助者: Chinese Ministry of Health ; Natural Science Foundation of Beijing ; NIH
WOS记录号: WOS:000263913000004
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50252
Appears in Collections:基础医学院_医学遗传学系_期刊论文

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作者单位: 1.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100871, Peoples R China
2.Peking Univ Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
3.Peking Univ, Coll Life Sci, Beijing 100871, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing 100083, Peoples R China
5.New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA

Recommended Citation:
Song, S.,Han, D.,Qu, H.,et al. EDA Gene Mutations Underlie Non-syndromic Oligodontia[J]. JOURNAL OF DENTAL RESEARCH,2009,88(2):126-131.
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