title: A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.
abstract: The structure of the EDA1 gene was investigated in a patient with anhidrotic ectodermal dysplasia. Sequence analysis revealed a novel A1270G transition in exon 9 of the EDA1 gene in the patient and his uncle, whereas the patient's mother and grandmother were heterozygotes. This mutation resulted in Tyr343Cys substitution in the extracellular domain of the EDA1 gene product - ectodysplasin-A. The additional Cys343 was located between Cys332 and Cys346 and formed with Cys352 a cluster of four closely situated residues that could potentially form disulfide bonds. This mutation might affect the tertiary structure of the receptor-binding domain of ectodysplasin-A and precipitate the clinical symptoms of anhidrotic ectodermal dysplasia.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Medical Sciences, Ponań, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kobielak
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Kobielak
authors.forename: Barbara
authors.initials: B
authors.lastname: Biedziak
authors.forename: Wieslaw H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D000225:Adenine; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003545:Cysteine; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins; D005091:Exons / Q000235:genetics; D005260:Female; D006147:Guanine; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D014443:Tyrosine
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D014443:Tyrosine; D006147:Guanine; D000225:Adenine; D003545:Cysteine