A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome.

摘要: Aim: To study a 46, XY newborn patient with phenotype suggestive of an androgen insensitivity syndrome to confirm anomaly in the AR gene. Methods: Genomic DNA from leukocytes was isolated order analyze SRY gene by PCR and sequencing eight exons Isolation human Leydig cell mesenchymal precursors testis performed testosterone production response hCG stimulation culture. Results: Surgical exploration disclosed two testes, no Wolffian structures important Mullerian derivatives. The present peripheral blood leukocytes. Sequencing evidenced previously unreported G T transversion exon I that changed normal glutamine 153 codon stop codon. Interstitial cultures produced sizable amounts were responsive stimulation. Conclusion: This E153X nonsense point mutation has not been described cases AIS, could lead synthesis shoe truncated (153 vs 919 residues) non functional probably responsible for complete (CAIS).