Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome

Abstract

To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS). DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced. DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation. A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.