title: Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating as a result of abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. Ectodysplasin-A, 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 revealed that codon 156 in the furin subdomain is the most frequent site of change in EDA.
authors.affiliation: Department of Dermatology, Kagoshima University, Faculty of Medicine, Kagoshima, Japan.
authors.forename: Takaki
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D004247:DNA