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

J Appl Genet. 2002;43(1):109-14.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Androgens / physiology*
  • Base Sequence
  • Codon, Terminator*
  • DNA Primers
  • Female
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Receptors, Androgen / genetics*

Substances

  • Androgens
  • Codon, Terminator
  • DNA Primers
  • Receptors, Androgen