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学科主题: 基础医学
题名:
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations
作者: Zhang, Jin2,3; Han, Dong2,3; Song, Shujuan1; Wang, Ying2,3; Zhao, Hongshan1,4; Pan, Shaoxia2,3; Bai, Baojing5; Feng, Hailan2,3
关键词: EDA ; Mutation ; Tooth agenesis
刊名: EUROPEAN JOURNAL OF MEDICAL GENETICS
发表日期: 2011-07-01
DOI: 10.1016/j.ejmg.2011.03.005
卷: 54, 期:4, 页:E377-E382
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: EDA GENE ; MISSENSE MUTATION ; DENTAL FINDINGS ; FAMILIES ; IDENTIFICATION ; ENAMEL
英文摘要:

Mutations in the ectodysplasin-A (EDA) gene can cause both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic hypodontia (NSH). The correlation between the phenotypes and genotypes of these two conditions has yet to be described. In the present study, 27 non-consanguineous Chinese XLHED subjects were screened and 17 EDA mutations were identified. In order to investigate the correlation between genotype and phenotype, we also reviewed related studies on NSH subjects with confirmed EDA mutations and compared the differences in the clinical manifestations and EDA mutations of the two conditions. Tooth agenesis was observed in addition to abnormalities of other ectodermal organs. Tooth agenesis was more severe in XLHED subjects than in NSH subjects, and there were statistically significant differences in 10 tooth positions in the XLHED and NSH subjects, including canines, premolars, and molars. With the exception of one splicing mutation, all mutations in the NSH subjects were missense mutations, and these were most likely to be located in the tumor necrosis factor (TNF) domain. Further, more than half of the mutations in the XLHED subjects were speculated to be loss of function mutations, such as nonsense, insertion, and deletion mutations, and these mutations were distributed across all EDA domains. Our results show that there exists a correlation between the phenotypes and genotypes of XLHED and NSH subjects harboring EDA mutations. Further, our findings suggest that NSH is probably a variable expression of XLHED. This finding might be useful for clinical diagnosis and genetic counseling in clinical practice, and provides some insight into the different manifestations of EDA mutations in different ectodermal organs. (C) 2011 Elsevier Masson SAS. All rights reserved.

语种: 英语
所属项目编号: 7092113 ; 2006BAI05A07 ; 2007-1005
项目资助者: Beijing Natural Science Foundation ; National Key Health Research Project Foundation of China ; Capital Medical Developing Foundation
WOS记录号: WOS:000293745000001
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55183
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.Capital Univ, Sch Stomatol, Dept Prosthodont, Beijing, Peoples R China
2.Peking Univ, Dept Med Genet, Hlth Sci Ctr, Beijing 100191, Peoples R China
3.Peking Univ, Sch Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
4.Peking Univ, Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
5.Peking Univ, Hlth Sci Ctr, Peking Univ Ctr Human Dis Genom, Beijing 100191, Peoples R China

Recommended Citation:
Zhang, Jin,Han, Dong,Song, Shujuan,et al. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS,2011,54(4):E377-E382.
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