Fan Huali, Ye Xiaoqian, Shi Lisong, Yin Wei, Hua Bo, Song Guangtai, Shi Bin, Bian Zhuan
Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University, Hubei, China.
Eur J Oral Sci. 2008 Oct;116(5):412-7. doi: 10.1111/j.1600-0722.2008.00555.x.
X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital disorder that results in the defective development of teeth, hair, nails, and eccrine sweat glands. Previous studies found that mutations in the ectodysplasin A (EDA) gene are associated with XLHED. In the present study, we investigated four Chinese families suffering from classical XLHED and investigated two additional families segregating hypodontia in an X-linked recessive manner. Mutations were characterized respectively in the EDA gene in all families, and five of these mutations were found to be novel. Among these mutations, five were missense (c.200A>T, c.463C>T, c.758T>C, c.926T>G, and c.491A>C) and located in the functional domain of EDA, and one was a splice donor site mutation in intron 5 (c.IVS5 + 1G>A), which may result in an alternative transcript derived from a new cryptic splice site. Our data further confirm that EDA mutations could cause both XLHED and isolated hypodontia and provide evidence that EDA is a strong candidate gene for tooth genesis.
X连锁少汗型外胚层发育不良（XLHED，OMIM 305100）是一种罕见的先天性疾病，会导致牙齿、毛发、指甲和外分泌汗腺发育缺陷。先前的研究发现，外胚层发育不良蛋白A（EDA）基因突变与XLHED有关。在本研究中，我们调查了四个患有典型XLHED的中国家庭，并另外调查了两个以X连锁隐性方式分离牙列缺损的家庭。分别对所有家庭的EDA基因进行了突变特征分析，发现其中五个突变是新的。在这些突变中，五个是错义突变（c.200A>T、c.463C>T c.758T>C、c.926T>G和c.491A>C），位于EDA的功能域，一个是内含子5的剪接供体位点突变（c.IVS5+1G>A），这可能导致来自新的隐蔽剪接位点的替代转录本。我们的数据进一步证实，EDA突变可导致XLHED和孤立性牙列缺损，并提供证据表明EDA是牙齿发育的一个强有力的候选基因。
