Journal of Andrology Testis Workshop 2009
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Published-Ahead-of-Print November 20, 2008, DOI:10.2164/jandrol.108.005520

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

Ramin Radpour *, Masoome Falah , Ali Aslani , Xiao Yan Zhong , and Ahmad Saleki

* To whom correspondence should be addressed. E-mail: radpourr{at}uhbs.ch.

Complete androgen insensitivity syndrome (CAIS) is an X-linked inherited disorder caused by mutations in the androgen receptor (AR) gene. Using PCR-single-strand DNA conformational polymorphism (SSCP) and DNA sequencing, we identified a novel nonsense mutation in the exon 1 of the AR gene, in two Iranian brothers with CAIS. 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 which 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.


Key words: Androgen • Androgen receptor • CAIS • androgen insensitivity syndrome • male • pseudohermaphroditism






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