Kere J, Srivastava A K, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen E Y, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Nat Genet. 1996 Aug;13(4):409-16. doi: 10.1038/ng0895-409.
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.
外胚层发育不良包含150多种发病机制不明的综合征。X连锁无汗性外胚层发育不良（EDA）的特征是毛发、牙齿和汗腺异常。我们现在描述了EDA中发生突变的基因的定位克隆。两个外显子被一个200千碱基的内含子隔开，编码一个预测的135个氨基酸的跨膜蛋白。该基因在6例患有X；常染色体易位或亚显微缺失的患者中被破坏；9例患者有基因突变。该基因在角质形成细胞、毛囊、汗腺以及其他成人和胎儿组织中表达。预测的EDA蛋白可能属于一个在上皮-间充质信号传导中起作用的新类别。
