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Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome.
J Androl. 2009 May-Jun; 30(3):230-2.JA

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.

Authors+Show Affiliations

Laboratory for Prenatal Medicine and Gynecologic Oncology, Department of Medicine, University of Basel, Basel, Switzerland. radpourr@uhbs.chNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19023143

Citation

Radpour, Ramin, et al. "Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome." Journal of Andrology, vol. 30, no. 3, 2009, pp. 230-2.
Radpour R, Falah M, Aslani A, et al. Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. J Androl. 2009;30(3):230-2.
Radpour, R., Falah, M., Aslani, A., Zhong, X. Y., & Saleki, A. (2009). Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. Journal of Andrology, 30(3), 230-2. https://doi.org/10.2164/jandrol.108.005520
Radpour R, et al. Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome. J Androl. 2009 May-Jun;30(3):230-2. PubMed PMID: 19023143.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. AU - Radpour,Ramin, AU - Falah,Masoume, AU - Aslani,Ali, AU - Zhong,Xiao Yan, AU - Saleki,Ahmad, Y1 - 2008/11/20/ PY - 2008/11/22/pubmed PY - 2009/7/30/medline PY - 2008/11/22/entrez SP - 230 EP - 2 JF - Journal of andrology JO - J Androl VL - 30 IS - 3 N2 - 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. SN - 1939-4640 UR - https://www.unboundmedicine.com/medline/citation/19023143/Identification_of_a_critical_novel_mutation_in_the_exon_1_of_androgen_receptor_gene_in_2_brothers_with_complete_androgen_insensitivity_syndrome_ L2 - https://doi.org/10.2164/jandrol.108.005520 DB - PRIME DP - Unbound Medicine ER -