title: A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
abstract: Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a predicted transmembrane protein of 135 amino acids, which was found to be expressed in keratinocytes, hair follicles, and sweat glands. A variety of rearrangements in this gene have been found in patients with hypohidrotic ectodermal dysplasia. We have screened the probands from nine unrelated Danish families with hypohidrotic ectodermal dysplasia for mutation in exon 1 of the EDA-gene by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). In one large kindred we identified a novel missense mutation (402C-->T), which changes a histidine to tyrosine at position 54 in the protein. This mutation cosegregates with the disease in the family and is the first mutation described which affects the predicted transmembrane, hydrophobic domain of the protein.
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Denmark.
authors.forename: J M
authors.initials: JM
authors.lastname: Hertz
authors.forename: K
authors.initials: K
authors.lastname: Nørgaard Hansen
authors.forename: I
authors.initials: I
authors.lastname: Juncker
authors.forename: M
authors.initials: M
authors.lastname: Kjeldsen
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
chemical_list: D017931:DNA Primers