title: Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome.
abstract: The action of testosterone and 5 alpha-dihydrotestosterone are essential to the development of the male phenotype. Patients with karyotype 46,XY, resistant to these hormones, exhibit a wide spectrum of phenotypes: from phenotypic female, through a range of incomplete masculinization, to under-virilized, infertile man. These disturbances are caused by mutations in the androgen receptor gene (AR). We studied a 46,XY fenotypic female with typical symptoms of Complete Androgen Insensitivity Syndrome (CAIS). Multiple temperature single-stranded conformation polymorphism (MSSCP) and sequence analysis of exon 6 of the AR gene in a patient revealed a C2718T transition causing R786X mutation in the loop between helices VII and VIII of the LBD of the androgen receptor. The R786X mutation has been described in a patient with CAIS only once and no such mutations have been described in Eastern Europe.
authors.affiliation: Department of Biochemistry and Molecular Biology, Karol Marcinkowski University of Medical Sciences, Poznań, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Ignacak
authors.forename: Marek
authors.initials: M
authors.lastname: Niedziela
authors.forename: Wiesław H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D000728:Androgens / Q000502:physiology*; D001483:Base Sequence; D018388:Codon, Terminator; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D000728:Androgens; D018388:Codon, Terminator; D017931:DNA Primers; D011944:Receptors, Androgen