Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
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.
Hashiguchi
Takaki
T
Department of Dermatology, Kagoshima University, Faculty of Medicine, Kagoshima, Japan.
Yotsumoto
Shinichi
S
Kanzaki
Tamotsu
T
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
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D004247:DNA