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

• Authors: M. Ignacak , M. Niedziela , W.H. Trzeciak
• Languages of publication: EN

Abstracts

EN

The action of testosterone and 5a-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.

Keywords

EN

COMPLETE ANDROGEN INSENSITIVITY SYNDROME; MUTATION; TRUNCATED RECEPTOR

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2002
• Volume: 43
• Issue: 1
• Pages: 109-114

Contributors

author

M. Ignacak

author

M. Niedziela

author

W.H. Trzeciak

• Document Type: SHORT COMMUNICA
• Publication order reference: W.H. Trzeciak, Department of Biochemistry and Molecular Biology, University of Medical Sciences, ul. Swiecickiego 6, 60-781 Poznan, Poland