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Case Report

Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome

MASOUME FALAH

ALI ASLANI

AHMAD SALEKI

From the ^* Laboratory for Prenatal Medicine and Gynecologic Oncology, Department of Medicine, University of Basel, Basel, Switzerland; the Laboratory for Genetics, Rasoul Akram Medical Complex, Iran University of Medical Sciences, Tehran, Iran; and the Department of Urology, Biomedical Research Center of Medical Sciences University, Tehran, Iran.

Correspondence to: Ramin Radpour, Laboratory for Prenatal Medicine and Gynecologic Oncology, Women's Hospital/Department of Biomedicine, University of Basel, CH 4031 Basel, Switzerland (e-mail: radpourr{at}uhbs.ch).

Abstract

Complete androgen insensitivity syndrome is an X-linked inherited disorder caused by mutations in the androgen receptor (AR) gene. Using polymerase chain reaction single-strand DNA conformational polymorphism and DNA sequencing, we identified a novel nonsense mutation in exon 1 of the AR gene in 2 Iranian brothers with complete androgen insensitivity syndrome. Despite a normal 46,XY karyotype, testes, and normal to elevated plasma levels of testosterone, they were born with female external genitalia and phenotype. This new mutation, a T-to-A transversion in exon 1, causes amino acid change of tyrosine (TAT) to ochre stop codon (TAA) at position 514 of the AR polypeptide. The Y514X mutation is located in a region that is normally important for the formation and function of the hormone receptor complex. We conclude that the novel Y514X mutation in the androgen receptor is the cause of complete androgen insensitivity syndrome in this family.