Genetic analysis of hypohidrotic ectodermal dysplasia

X-连锁少汗性外胚层发育不良（XLHED; OMIM 305100）的特征是由于汗腺发育异常导致的毛发稀疏、牙齿异常和出汗减少。编码外胚层发育不良-A（EDA）的ED 1基因突变导致XLHED。EDA是EDA受体的配体，在表皮形态发生中起重要作用。我们通过对8个无关的日本XLHED家族的基因组DNA进行测序，发现了包括3个新突变在内的ED 1突变。所有报告的突变数据显示，密码子156弗林蛋白酶亚结构域是EDA中最常见的变化位点。

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating due to abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. EDA, a ligand for the EDA receptor, plays an important role in epidermal morphogenesis. We identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese XLHED families. Data from all reported mutations reveal that codon 156 in the furin subdomain is the most frequent site of change in EDA.